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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. </p></div><div class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="All GeneReviews" href="/books/n/gene/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" alt="Cover of GeneReviews®" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>GeneReviews<sup>®</sup> [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK1138_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK1138_dtls__"><div>Adam MP, Feldman J, Mirzaa GM, et al., editors.</div><div>Seattle (WA): <a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>; 1993-2025.</div></div><div class="half_rhythm"><ul class="inline_list"><li style="margin-right:1em"><a class="bk_cntns" href="/books/n/gene/">GeneReviews by Title</a></li></ul></div><div class="bk_noprnt"><form method="get" action="/books/n/gene/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search GeneReviews" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search GeneReviews" submit="false" style="padding: 0.1em 0.4em;" /></div></form><div><ul class="inline_list"><li><a href="/books/n/gene/advanced/">GeneReviews Advanced Search</a></li><li style="margin-left:.5em"><a href="/books/n/gene/helpadvsearch/">Help</a></li></ul></div></div></div><div class="icnblk_cntnt two_col"><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gene/hep/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/hcp/" title="Next page in this title">Next ></a></div></div></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK1138_"><span class="title" itemprop="name">Hereditary Ataxia Overview</span></h1><p class="contrib-group"><span itemprop="author">Susan Perlman</span>, MD.</p><a data-jig="ncbitoggler" href="#__NBK1138_ai__" style="border:0;text-decoration:none">Author Information and Affiliations</a><div style="display:none" class="ui-widget" id="__NBK1138_ai__"><div class="contrib half_rhythm"><span itemprop="author">Susan Perlman</span>, MD<div class="affiliation small">David Geffen School of Medicine<br />University of California Los Angeles<br />Los Angeles, California<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.alcu.tendem@namlreps" class="oemail">ude.alcu.tendem@namlreps</a></div></div></div></div><p class="small">Initial Posting: <span itemprop="datePublished">October 28, 1998</span>; Last Revision: <span itemprop="dateModified">February 20, 2025</span>.</p><p><em>Estimated reading time: 24 minutes</em></p></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="ataxias.Summary" itemprop="description"><h2 id="_ataxias_Summary_">Summary</h2><p>The purpose of this overview is to:</p><dl class="temp-labeled-list"><dt>1.</dt><dd><p class="no_top_margin">Briefly describe the <a href="#ataxias.Clinical_Characteristics_of_Prim">clinical characteristics</a> of hereditary ataxias (sometimes referred to as "primary hereditary ataxias") for which an adult with ataxia or the caregivers of a child with ataxia would seek diagnosis and management from a neurologist as part of a multidisciplinary team;</p></dd><dt>2.</dt><dd><p class="no_top_margin">Review common and notable <a href="#ataxias.Causes_of_Hereditary_Ataxia">genetic causes</a> of hereditary ataxia;</p></dd><dt>3.</dt><dd><p class="no_top_margin">Provide an <a href="#ataxias.Evaluation_Strategies_to_Identif">evaluation strategy</a> to identify the genetic cause of hereditary ataxia in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>;</p></dd><dt>4.</dt><dd><p class="no_top_margin">Review <a href="#ataxias.Management_of_Hereditary_Ataxia">management</a> of hereditary ataxia;</p></dd><dt>5.</dt><dd><p class="no_top_margin">Inform <a href="#ataxias.Genetic_Counseling_of_Family_Mem">genetic counseling</a> of family members of an individual with hereditary ataxia.</p></dd></dl>
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</div><div id="ataxias.Clinical_Characteristics_of_Prim"><h2 id="_ataxias_Clinical_Characteristics_of_Prim_">1. Clinical Characteristics of Primary Hereditary Ataxia</h2><p>For the purposes of this chapter, which deals exclusively with hereditary ataxias, the term "primary hereditary ataxia" has been used to designate hereditary ataxias for which an adult with ataxia or the caregivers of a child with ataxia would seek diagnosis and management from a neurologist as part of a multidisciplinary team.</p><p>Use of the term "primary hereditary ataxia" is intended to exclude hereditary multisystem disorders in which ataxia may be observed, but is usually not the primary presenting manifestation.</p><div id="ataxias.Excluded_Categories"><h3>Excluded Categories</h3><p>For the purposes of this overview the following categories of hereditary disorders in which ataxia may occur are not considered primary hereditary ataxias:</p><ul><li class="half_rhythm"><div>Infantile-onset multisystem disorder</div></li><li class="half_rhythm"><div>Epileptic encephalopathy</div></li><li class="half_rhythm"><div>Presence of distinctive MRI findings:</div><ul><li class="half_rhythm"><div>Brain malformation (e.g., cerebellar hypoplasia, cerebellar vermis hypoplasia as in <a href="/books/n/gene/joubert/">Joubert syndrome</a> and related disorders)</div></li><li class="half_rhythm"><div>Leukodystrophy</div></li></ul></li><li class="half_rhythm"><div>Developmental delay / intellectual disability</div></li><li class="half_rhythm"><div>An inborn error of metabolism (e.g., <a href="/books/n/gene/pbd/">peroxisomal biogenesis disorders</a>, <a href="/books/n/gene/pbd/">Zellweger spectrum disorders</a>, disorders of glycosylation)</div></li><li class="half_rhythm"><div>Primary mitochondrial disorders (See <a href="/books/n/gene/mt-overview/">Primary Mitochondrial Disorders Overview</a>.)</div></li><li class="half_rhythm"><div>Other complex multisystem disorders such as <a href="/books/n/gene/npc/">Niemann-Pick disease type C</a> and late-onset Tay-Sachs disease (see <a href="/books/n/gene/tay-sachs/"><i>HEXA</i> Disorders</a>), which can on occasion present with ataxia</div></li></ul></div><div id="ataxias.Manifestations"><h3>Manifestations</h3><p>The manifestations of many of the more common primary hereditary ataxias discussed in <a href="#ataxias.Causes_of_Hereditary_Ataxia">Section 2</a> of this overview become evident between ages 30 and 50 years, although manifestations of other ataxias are evident before age 25 years (e.g., ataxia with oculomotor apraxia, <a href="/books/n/gene/friedreich/">Friedreich ataxia</a>) or before age five years (e.g., <a href="/books/n/gene/ataxia-telangiectas/">ataxia-telangiectasia</a>).</p><p>The <b>first manifestation</b> of ataxia can include:</p><ul><li class="half_rhythm"><div>Most commonly, a slowly progressive gait disorder that appears unsteady and predisposes to unexpected falls;</div></li><li class="half_rhythm"><div>Disequilibrium ("dizziness"), which may lead to an evaluation for peripheral vestibular dysfunction;</div></li><li class="half_rhythm"><div>Hand and finger clumsiness or tremor, which may raise the possibility of essential tremor or even parkinsonism;</div></li><li class="half_rhythm"><div>Slurring of speech or unexpected choking, which could lead to an evaluation for <a href="/books/n/gene/als-overview/">amyotrophic lateral sclerosis</a> (ALS);</div></li><li class="half_rhythm"><div>Rarely, double vision, which could lead to an evaluation by an optometrist or ophthalmologist.</div></li></ul><p>At disease onset, these manifestations may be intermittent or evident only at certain times (e.g., later in the day, when tired, after consuming alcohol). The manifestations typically become constant and slowly worsen.</p><p>Typical <b>cerebellar features</b> on neurologic examination include:</p><ul><li class="half_rhythm"><div>Wide-based, staggering walk with difficulty performing tandem gait;</div></li><li class="half_rhythm"><div>Truncal instability when sitting unsupported;</div></li><li class="half_rhythm"><div>Difficulty with target maneuvers of the upper extremities (dysmetria, terminal tremor);</div></li><li class="half_rhythm"><div>Slowed rapid alternating movements (dysdiadochokinesis);</div></li><li class="half_rhythm"><div>Dysarthria (slowed or slurred articulation, variable pitch and loudness, monotonous or "scanning" speech);</div></li><li class="half_rhythm"><div>Abnormal eye movements (saccade intrusions in primary gaze, nystagmus in horizontal or vertical gaze, saccade hypermetria).</div></li></ul><p><b>Non-cerebellar findings</b> that can mimic or exacerbate the cerebellar ataxia (which can be identified by examination or testing) include:</p><ul><li class="half_rhythm"><div>Alterations in descending frontal or parietal motor pathways (e.g., in normal pressure hydrocephalus);</div></li><li class="half_rhythm"><div>Brain stem changes that disrupt cerebellar pathways (e.g., in central vestibular dysfunction);</div></li><li class="half_rhythm"><div>Sensory pathway dysfunctions that alter input to the cerebellum (visual, peripheral vestibular, posterior column, peripheral sensory);</div></li><li class="half_rhythm"><div>Other sources of motor change, especially as they affect gait (weakness, rigidity, spasticity);</div></li><li class="half_rhythm"><div>Non-neurologic disorders (e.g., joint disease).</div></li></ul><p>Brain imaging (MRI, MRS, PET) confirms the presence of cerebellar atrophy or hypoplasia.</p><p>Electronystagmography can document dysfunction in cerebellar, vestibular, or oculomotor pathways.</p><p><b>Progression</b> of a hereditary ataxia usually leads to:</p><ul><li class="half_rhythm"><div>Use of assistive devices for ambulation five to ten years after onset and ultimately to wheelchair dependence;</div></li><li class="half_rhythm"><div>Choking or falls resulting in, for example, head injury or hip fracture, which are common causes of morbidity and mortality;</div></li><li class="half_rhythm"><div>Infection and sepsis (from aspiration or other pneumonia, urinary tract infection, decubiti), especially prominent in the later stages of disease;</div></li><li class="half_rhythm"><div>Decline in self-care ability, increasing risk of falls, dependence on a feeding tube, and/or incontinence;</div></li><li class="half_rhythm"><div>The family or caregiver's need to consider more in-home care assistance or out-of-home placement.</div></li></ul><p>Affected individuals do not usually live longer than 25 years after manifestations emerge.</p><p>See <a class="figpopup" href="/books/NBK1138/figure/ataxias.F1/?report=objectonly" target="object" rid-figpopup="figataxiasF1" rid-ob="figobataxiasF1">Figure 1</a> for worldwide distribution of the most common primary hereditary ataxias.</p><div class="iconblock whole_rhythm clearfix ten_col fig" id="figataxiasF1" co-legend-rid="figlgndataxiasF1"><a href="/books/NBK1138/figure/ataxias.F1/?report=objectonly" target="object" title="Figure 1. " class="img_link icnblk_img figpopup" rid-figpopup="figataxiasF1" rid-ob="figobataxiasF1"><img class="small-thumb" src="/books/NBK1138/bin/ataxias-Image001.gif" src-large="/books/NBK1138/bin/ataxias-Image001.jpg" alt="Figure 1. " /></a><div class="icnblk_cntnt" id="figlgndataxiasF1"><h4 id="ataxias.F1"><a href="/books/NBK1138/figure/ataxias.F1/?report=objectonly" target="object" rid-ob="figobataxiasF1">Figure 1. </a></h4><p class="float-caption no_bottom_margin">Worldwide distribution of SCA subtypes[Schöls et al 1997, Moseley et al 1998, Saleem et al 2000, Storey et al 2000, Tang et al 2000, Maruyama et al 2002, Silveira et al 2002, van de Warrenburg et al 2002, Dryer et al 2003, Brusco et al 2004, Schöls <a href="/books/NBK1138/figure/ataxias.F1/?report=objectonly" target="object" rid-ob="figobataxiasF1">(more...)</a></p></div></div></div></div><div id="ataxias.Causes_of_Hereditary_Ataxia"><h2 id="_ataxias_Causes_of_Hereditary_Ataxia_">2. Causes of Hereditary Ataxia</h2><p>Note: Up to 40% of adults with late-onset cerebellar ataxia and no family history of ataxia will not have an identified genetic cause despite a comprehensive evaluation (see <a href="#ataxias.Evaluation_Strategies_to_Identif">Section 3</a>).</p><p>The causes of primary hereditary ataxia included in this overview are separated into <a class="def" href="/books/n/gene/glossary/def-item/nucleotide-repeat/">nucleotide repeat</a> disorders (<a href="/books/NBK1138/table/ataxias.T.hereditary_ataxias_caused_by_n/?report=objectonly" target="object" rid-ob="figobataxiasThereditaryataxiascausedbyn">Table 1</a>), other common hereditary ataxias (<a href="/books/NBK1138/table/ataxias.T.most_common_hereditary_ataxias/?report=objectonly" target="object" rid-ob="figobataxiasTmostcommonhereditaryataxias">Table 2</a>), and potentially treatable causes of hereditary ataxia (<a href="/books/NBK1138/table/ataxias.T.genetic_causes_of_vitamin_e_de/?report=objectonly" target="object" rid-ob="figobataxiasTgeneticcausesofvitaminede">Table 3</a> and <a href="/books/NBK1138/table/ataxias.T.primary_coenzyme_q10_coq10_def/?report=objectonly" target="object" rid-ob="figobataxiasTprimarycoenzymeq10coq10def">Table 4</a>).</p><div id="ataxias.Nucleotide_Repeat_Disorders"><h3>Nucleotide Repeat Disorders</h3><p>The <a class="def" href="/books/n/gene/glossary/def-item/nucleotide-repeat/">nucleotide repeat</a> disorders (see <a href="/books/NBK1138/table/ataxias.T.hereditary_ataxias_caused_by_n/?report=objectonly" target="object" rid-ob="figobataxiasThereditaryataxiascausedbyn">Table 1</a>), the most common cause of hereditary ataxia, are discussed separately because of their unique molecular mechanism and inheritance issues.</p><div id="ataxias.Molecular_Mechanism"><h4>Molecular Mechanism</h4><p>In <a class="def" href="/books/n/gene/glossary/def-item/nucleotide-repeat/">nucleotide repeat</a> disorders, a sequence of nucleotides is repeated a number of times in tandem within a <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> (in an <a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> or <a class="def" href="/books/n/gene/glossary/def-item/intron/">intron</a>) or near a gene. For a given gene, the size of the nucleotide repeats varies: smaller numbers of repeats are common and not associated with phenotypic abnormalities, whereas abnormally large numbers of repeats (uninterrupted or interrupted) may be associated with phenotypic abnormalities.</p></div><div id="ataxias.Inheritance_Issues"><h4>Inheritance Issues</h4><p>All three modes of inheritance can be observed in <a class="def" href="/books/n/gene/glossary/def-item/nucleotide-repeat/">nucleotide repeat</a> disorders: <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>, <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>, and <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a>.</p><p><b>Autosomal dominant inheritance.</b> A unique aspect of <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> inheritance of <a class="def" href="/books/n/gene/glossary/def-item/nucleotide-repeat/">nucleotide repeat</a> disorders is <a class="def" href="/books/n/gene/glossary/def-item/anticipation/">anticipation</a>, the earlier onset and increasing severity of disease in subsequent generations as a result of expansion in the repeat size during transmission. In some disorders, anticipation may be so extreme that children with early-onset, severe, and usually phenotypically different disease die of disease complications long before the affected parent or grandparent is symptomatic.</p><p><b><a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> inheritance.</b> A unique aspect of <a href="/books/n/gene/fragilex/">fragile X-associated tremor/ataxia syndrome</a>, the most common X-linked ataxia, is its occurrence in males and females with repeat sizes in the <a class="def" href="/books/n/gene/glossary/def-item/premutation/">premutation</a> range.</p><div id="ataxias.T.hereditary_ataxias_caused_by_n" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Hereditary Ataxias Caused by Nucleotide Repeat Expansions</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1138/table/ataxias.T.hereditary_ataxias_caused_by_n/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__ataxias.T.hereditary_ataxias_caused_by_n_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Disorder <sup>2</sup></th><th id="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinguishing Non-Ataxic Clinical Features</th><th id="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1 hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2 hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3 hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4 hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" colspan="5" scope="col" rowspan="1" style="text-align:left;vertical-align:middle;">
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<b>Most commonly involved genes <sup>3</sup></b>
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</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>ATN1</i>
|
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</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/drpla/">DRPLA</a>
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</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Chorea, dementia, myoclonus, seizures; mimics Huntington disease.</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Anticipation is prominent.</div></li><li class="half_rhythm"><div>More common in Japan</div></li></ul>
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</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<i>ATXN1</i>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/sca1/">SCA1</a>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Peripheral neuropathy, pyramidal signs; early bulbar features; occasional cognitive decline</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anticipation is more likely w/paternal transmission.</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ATXN2</i>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/sca2/">SCA2</a>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">↓ DTRs, dementia, peripheral neuropathy, slow saccadic eye movements</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Anticipation is more likely w/paternal transmission.</div></li><li class="half_rhythm"><div>Large Cuban founder population</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ATXN3</i>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/sca3/">SCA3</a>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Amyotrophy, fasciculations, sensory loss; lid retraction, nystagmus, & ↓ saccade velocity; pyramidal & extrapyramidal signs; shortened life span</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Anticipation may be more likely w/paternal transmission.</div></li><li class="half_rhythm"><div>Large Portuguese founder population</div></li><li class="half_rhythm"><div>Also known as Machado-Joseph disease</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ATXN7</i>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/sca7/">SCA7</a>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Visual loss w/retinopathy; often rapidly progressive; shortened life span</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anticipation is prominent w/more marked repeat expansions w/paternal transmission.</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ATXN8</i>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/sca8/">SCA8</a>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Slowly progressive, sometimes brisk DTRs, ↓ vibration sense; rarely, cognitive impairment in persons w/earlier onset</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Anticipation is more likely w/maternal transmission.</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ATXN8OS</i>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ATXN10</i>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/sca10/">SCA10</a>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Seizures in certain families</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Anticipation can occur w/paternal transmission.</div></li><li class="half_rhythm"><div>Large Mexican founder population</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CACNA1A</i>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/sca6/">SCA6</a>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">May begin w/episodic ataxia, very slow progression; onset often after age 50 yrs; normal life span</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Anticipation is not seen.</div></li><li class="half_rhythm"><div>See <a href="/books/NBK1138/table/ataxias.T.most_common_hereditary_ataxias/?report=objectonly" target="object" rid-ob="figobataxiasTmostcommonhereditaryataxias">Table 2</a> for ataxia caused by <a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a> variants.</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>FGF14</i> <sup>3</sup></td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/fgf14-ataxia/">SCA27B</a>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Adult-onset ataxia; episodic features; downbeat nystagmus; vertigo; peripheral neuropathy</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Differential diagnosis: <i>RFC1</i> CANVAS / spectrum disorder</div></li><li class="half_rhythm"><div>Manifestations responsive to 4-aminopyridine</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>FXN</i>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/friedreich/">Friedreich ataxia</a>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Generally childhood onset w/slowly progressive ataxia, absent tendon reflexes, Babinski responses, posterior column sensory loss, cardiomyopathy, scoliosis, pes cavus, & diabetes; in some: onset ≥25 yrs, slower progression, & retained reflexes</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Anticipation is not seen.</div></li><li class="half_rhythm"><div>Targeted therapy: omaveloxolone has been shown to slow progression of FRDA.</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RFC1</i>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/rfc1-canvas/"><i>RFC1</i> CANVAS / spectrum disorder</a>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Spectrum ranges from typical cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), to cerebellar, sensory, & vestibular impairment, to more limited phenotypes involving predominantly or exclusively 1 of the systems involved in balance control.</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anticipation is not seen.</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TBP</i>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/sca17/">SCA17</a>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mental deterioration; occasional chorea, dystonia, myoclonus, epilepsy</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anticipation is infrequently observed.</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ZFHX3</i>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/sca4/">SCA4</a>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Eye movement abnormalities, dysarthria, dysphagia, sensory neuropathy, muscle wasting & spasticity, autonomic dysfunction (orthostatic hypotension), & cognition &/or behavior manifestations; onset: age 12-65 yrs</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anticipation has been observed in many families.</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1 hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2 hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3 hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4 hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" colspan="5" scope="col" rowspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Less commonly involved genes</b>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>BEAN1</i> <sup>4, 5</sup></td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SCA31 (OMIM <a href="https://omim.org/entry/117210" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">117210</a>)</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Normal sensation</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Common in Japan</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>FMR1</i>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Fragile X-associated tremor/ataxia syndrome (FXTAS) (See <a href="/books/n/gene/fragilex/"><i>FMR1</i> Disorders</a>.)</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Anticipation occurs almost exclusively w/maternal transmission.</div></li><li class="half_rhythm"><div>Most common <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> ataxia; occurs in male & female <a class="def" href="/books/n/gene/glossary/def-item/premutation/">premutation</a> carriers</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>NOP56</i> <sup>4, 5</sup></td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/sca36/">SCA36</a>
|
||
</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hyperreflexia, muscle fasciculations, tongue atrophy</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Insufficient evidence for <a class="def" href="/books/n/gene/glossary/def-item/anticipation/">anticipation</a></td></tr><tr><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>PPP2R2B</i> <sup>4, 5</sup></td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SCA12 (OMIM <a href="https://www.omim.org/entry/604326" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">604326</a>)</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Action tremor in the 4th decade, cognitive/psychiatric disorders incl dementia, hyperreflexia, slowly progressive ataxia, subtle parkinsonism possible</td><td headers="hd_h_ataxias.T.hereditary_ataxias_caused_by_n_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Insufficient evidence for <a class="def" href="/books/n/gene/glossary/def-item/anticipation/">anticipation</a></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">DRPLA = dentatorubral-pallidoluysian atrophy; DTR = deep tendon reflex; FRDA = Friedreich ataxia; SCA = spinocerebellar ataxia</p></div></dd><dt>1. </dt><dd><div id="ataxias.TF.1.1"><p class="no_margin">Genes are listed in alphabetic order within prevalence categories.</p></div></dd><dt>2. </dt><dd><div id="ataxias.TF.1.2"><p class="no_margin">For more information see hyperlinked <i>GeneReview</i>. An OMIM <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a> entry is provided if a <i>GeneReview</i> is not available.</p></div></dd><dt>3. </dt><dd><div id="ataxias.TF.1.3"><p class="no_margin">
|
||
<a class="bk_pop" href="#ataxias.REF.wilke.2023.4144">Wilke et al [2023]</a>
|
||
</p></div></dd><dt>4. </dt><dd><div id="ataxias.TF.1.4"><p class="no_margin">
|
||
<a class="bk_pop" href="#ataxias.REF.d_rr.2010.885">Dürr [2010]</a>
|
||
</p></div></dd><dt>5. </dt><dd><div id="ataxias.TF.1.5"><p class="no_margin">Nucleotide repeat expansions in <i>BEAN1</i>, <i>NOP56</i>, and <i>PPP2R2B</i> represent relatively rare causes of hereditary ataxia.</p></div></dd></dl></div></div></div></div></div><div id="ataxias.Other_Common_Hereditary_Ataxias"><h3>Other Common Hereditary Ataxias</h3><div id="ataxias.T.most_common_hereditary_ataxias" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Most Common Hereditary Ataxias (Excluding Nucleotide Repeat Disorders)</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1138/table/ataxias.T.most_common_hereditary_ataxias/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__ataxias.T.most_common_hereditary_ataxias_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" rowspan="2" scope="rowgroup" colspan="1" headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3" colspan="2" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Phenotype</th><th id="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="2" scope="col" colspan="1" headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" style="text-align:left;vertical-align:middle;">Other Phenotypic Features / Comments</th><th id="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="2" scope="col" colspan="1" headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" style="text-align:left;vertical-align:middle;">Designation / <i>GeneReview</i> / OMIM</th></tr><tr><th headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3" id="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Ataxia</th><th headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3" id="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Spasticity</th></tr></thead><tbody><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" rowspan="2" scope="rowgroup" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>AFG3L2</i>
|
||
</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" rowspan="2" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" rowspan="2" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Ophthalmoparesis, slow saccades, ptosis <sup>3</sup></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SCA28 (OMIM <a href="https://omim.org/entry/610246" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">610246</a>)</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">SCAR5 (OMIM <a href="https://omim.org/entry/614487" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">614487</a>)</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ANO10</i>
|
||
</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Downbeat nystagmus, fasciculations</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SCAR10 (OMIM <a href="https://omim.org/entry/613728" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613728</a>)</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>APTX</i>
|
||
</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Early-onset ataxia, oculomotor apraxia, extrapyramidal features, sensorimotor neuropathy, hypoalbuminemia; secondary coenzyme Q<sub>10</sub> deficiency (See <a href="/books/n/gene/coq10-def/">Primary Coenzyme Q<sub>10</sub> Deficiency</a>.)</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ataxia with oculomotor apraxia type 1 (OMIM <a href="https://omim.org/entry/208920" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">208920</a>)</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ATM</i>
|
||
</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Early-onset ataxia, oculomotor apraxia, extrapyramidal features, immunodeficiency, cancer risk, ↑ alphafetoprotein</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/ataxia-telangiectas/">Ataxia-Telangiectasia</a>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>CACNA1A</i> <sup>2</sup></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Episodic ataxia type 2 (OMIM <a href="https://omim.org/entry/108500" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">108500</a>)</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" rowspan="2" scope="rowgroup" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ITPR1</i>
|
||
</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Adult onset, slowly progressive</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SCA15/16 (OMIM <a href="https://omim.org/entry/606658" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">606658</a>)</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">AD <sup>3</sup></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Congenital, non-progressive</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SCA29 (OMIM <a href="https://omim.org/entry/117360" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">117360</a>)</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" rowspan="2" scope="rowgroup" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>KCNC3</i>
|
||
</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">AD <sup>3</sup></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" rowspan="2" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Adult onset, slowly progressive</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/sca13/">SCA13</a>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" colspan="1" scope="col" rowspan="1" style="text-align:left;vertical-align:middle;">Congenital, non-progressive</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>KCND3</i> <sup>4</sup></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SCA19/22 (OMIM <a href="https://omim.org/entry/605411" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">605411</a>)</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PRKCG</i>
|
||
</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/sca14/">SCA14</a>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SACS</i>
|
||
</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Early-onset ataxia w/spastic paraparesis & axonal-demyelinating sensorimotor neuropathy; hypointense pontine stripes on T<sub>2</sub>-weighted MRI <sup>5</sup></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/arsacs/">ARSACS</a> (SPAX6)</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>SETX</i> <sup>6</sup></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Early-onset ataxia, oculomotor apraxia w/↑ alpha-fetoprotein <sup>5</sup></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/aoa2/">Ataxia with Oculomotor Apraxia Type 2</a> (SCAR1)</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SPG7</i>
|
||
</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Variable spasticity & cerebellar ataxia <sup>5</sup></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/spg7/">Spastic Paraplegia 7</a>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" rowspan="2" scope="rowgroup" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SPTBN2</i>
|
||
</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" rowspan="2" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SCA5 (OMIM <a href="https://omim.org/entry/600224" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">600224</a>)</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" colspan="1" rowspan="1" style="text-align:left;vertical-align:middle;">SCAR14 (OMIM <a href="https://omim.org/entry/615386" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">615386</a>)</td></tr><tr><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>SYNE1</i> <sup>7</sup></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_1" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_3 hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_2_2" rowspan="1" colspan="1" style="text-align:center;vertical-align:middle;">+</td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cerebellar ataxia, variable spasticity, & further multisystemic neurologic damage <sup>5</sup></td><td headers="hd_h_ataxias.T.most_common_hereditary_ataxias_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">ARCA1 (SCAR8) (See <a href="/books/n/gene/syne1ca-ar/">SYNE1 Deficiency</a>.)</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">Based on <a class="bk_pop" href="#ataxias.REF.synofzik.2017.332">Synofzik & Schüle [2017]</a> and <a class="bk_pop" href="#ataxias.REF.galatolo.2018.1">Galatolo et al [2018]</a></p></div></dd><dt></dt><dd><div><p class="no_margin">AD = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>; ARCA = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> cerebellar ataxia; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a>; SCA = spinocerebellar ataxia; SCAR = spinocerebellar ataxia, autosomal recessive; SPAX = spastic ataxia, autosomal recessive</p></div></dd><dt>1. </dt><dd><div id="ataxias.TF.2.1"><p class="no_margin">Genes are listed in alphabetic order.</p></div></dd><dt>2. </dt><dd><div id="ataxias.TF.2.2"><p class="no_margin">Allelic disorders include <a href="/books/n/gene/fhm/">familial hemiplegic migraine</a> and <a href="/books/n/gene/sca6/">spinocerebellar ataxia type 6</a>.</p></div></dd><dt>3. </dt><dd><div id="ataxias.TF.2.3"><p class="no_margin">The disorder may occur as the result of a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</p></div></dd><dt>4. </dt><dd><div id="ataxias.TF.2.4"><p class="no_margin">Allelic disorder: <a href="/books/n/gene/brugada/">Brugada syndrome</a></p></div></dd><dt>5. </dt><dd><div id="ataxias.TF.2.5"><p class="no_margin">
|
||
<a class="bk_pop" href="#ataxias.REF.synofzik.2017.332">Synofzik & Schüle [2017]</a>
|
||
</p></div></dd><dt>6. </dt><dd><div id="ataxias.TF.2.6"><p class="no_margin">Allelic disorder: <a href="/books/n/gene/als-overview/">amyotrophic lateral sclerosis</a></p></div></dd><dt>7. </dt><dd><div id="ataxias.TF.2.7"><p class="no_margin">Allelic <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>: arthrogryposis multiplex congenita (See <a href="/books/n/gene/syne1ca-ar/">SYNE1 Deficiency</a>.)</p></div></dd></dl></div></div></div></div><div id="ataxias.Potentially_Treatable_Hereditary"><h3>Potentially Treatable Hereditary Ataxias</h3><p><b>Friedreich ataxia (FRDA).</b> Omaveloxolone (an Nrf2 activator) is approved in the United States and Europe for individuals age 16 years and older. It has been shown to slow progression of FRDA (see Friedreich Ataxia, <a href="/books/n/gene/friedreich/#friedreich.Management">Management</a>).</p><p><b>Hereditary ataxias treatable with vitamin E replacement.</b> See <a href="/books/NBK1138/table/ataxias.T.genetic_causes_of_vitamin_e_de/?report=objectonly" target="object" rid-ob="figobataxiasTgeneticcausesofvitaminede">Table 3</a>.</p><div id="ataxias.T.genetic_causes_of_vitamin_e_de" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Genetic Causes of Vitamin E Deficiency (Treatable with Vitamin E Replacement)</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1138/table/ataxias.T.genetic_causes_of_vitamin_e_de/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__ataxias.T.genetic_causes_of_vitamin_e_de_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Phenotypic Features in Addition to Ataxia / Comments</th><th id="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<i>GeneReview</i>
|
||
</th></tr></thead><tbody><tr><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ANGPTL3</i>
|
||
</td><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Neuropathy, retinopathy, acanthocytosis</td><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/fch/">Familial combined hypolipidemia</a>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>APOB</i>
|
||
</td><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR <sup>3</sup></td><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<p>
|
||
<a href="/books/n/gene/apob-hbl/"><i>APOB</i>-Related Familial Hypobetalipoproteinemia</a>
|
||
</p>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MTTP</i>
|
||
</td><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Large fiber sensory neuropathy, retinopathy, acanthocytosis</td><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/ab-lipo-p/">Abetalipoproteinemia</a> (Bassen-Kornzweig disease)</td></tr><tr><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TTPA</i>
|
||
</td><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Proprioceptive sensory loss, absent DTR</td><td headers="hd_h_ataxias.T.genetic_causes_of_vitamin_e_de_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/aved/">Ataxia w/Vitamin E Deficiency</a>
|
||
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">Based on <a class="bk_pop" href="#ataxias.REF.synofzik.2017.332">Synofzik & Schüle [2017]</a></p></div></dd><dt></dt><dd><div><p class="no_margin">AR = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>; DTR = deep tendon reflex; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a></p></div></dd><dt>1. </dt><dd><div id="ataxias.TF.3.1"><p class="no_margin">Genes are listed in alphabetic order.</p></div></dd><dt>2. </dt><dd><div id="ataxias.TF.3.2"><p class="no_margin">
|
||
<a class="bk_pop" href="#ataxias.REF.burnett.2015.59">Burnett & Hooper [2015]</a>
|
||
</p></div></dd><dt>3. </dt><dd><div id="ataxias.TF.3.3"><p class="no_margin"><i>APOB</i>-related <a class="def" href="/books/n/gene/glossary/def-item/familial/">familial</a> hypobetalipoproteinemia caused by <a class="def" href="/books/n/gene/glossary/def-item/homozygous/">homozygous</a> (or <a class="def" href="/books/n/gene/glossary/def-item/compound-heterozygous/">compound heterozygous</a>) pathogenic variants in <i>APOB</i> is inherited in an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> manner.</p></div></dd></dl></div></div></div><p><b>Hereditary ataxias possibly responsive to coenzyme Q<sub>10</sub> replacement.</b> See <a href="/books/NBK1138/table/ataxias.T.primary_coenzyme_q10_coq10_def/?report=objectonly" target="object" rid-ob="figobataxiasTprimarycoenzymeq10coq10def">Table 4</a>.</p><div id="ataxias.T.primary_coenzyme_q10_coq10_def" class="table"><h3><span class="label">Table 4. </span></h3><div class="caption"><p>Primary Coenzyme Q<sub>10</sub> (CoQ<sub>10</sub>) Deficiency (Possibly Responsive to CoQ<sub>10</sub> Replacement)</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1138/table/ataxias.T.primary_coenzyme_q10_coq10_def/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__ataxias.T.primary_coenzyme_q10_coq10_def_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Phenotypic Features</th><th id="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Designation /<br /><i>GeneReview /</i><br />OMIM</th></tr></thead><tbody><tr><td headers="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_1" rowspan="2" scope="rowgroup" colspan="1" style="text-align:left;vertical-align:middle;"><i>COQ2</i> <sup>2</sup></td><td headers="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SRNS, retinitis pigmentosa, SNHL, hypertrophic cardiomyopathy, ragged red muscle changes, seizures, lactic academia <sup>3</sup></td><td headers="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">COQ10D1; <a href="/books/n/gene/coq10-def/">Primary CoQ<sub>10</sub> Deficiency</a></td></tr><tr><td headers="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">AD<br />AR</td><td headers="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">A small number of persons of Japanese ancestry w/multiple system atrophy type C have <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> or <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> <i>COQ2</i> pathogenic variants.</td><td headers="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM <a href="https://omim.org/entry/146500" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">146500</a></td></tr><tr><td headers="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>COQ4</i>
|
||
</td><td headers="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Heart failure, hypertrophic cardiomyopathy, retinopathy, encephalopathy, seizures, ataxia, myopathy</td><td headers="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">COQ10D7; <a href="/books/n/gene/coq10-def/">Primary CoQ<sub>10 </sub>Deficiency</a></td></tr><tr><td headers="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>COQ8A</i>
|
||
</td><td headers="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">• Onset of muscle weakness & reduced exercise tolerance between ages 18 mos & 3 yrs, followed by cerebellar ataxia (the predominant clinical feature) w/severe cerebellar atrophy on MRI<br />• Disease course varies, incl both progressive & apparently self-limited ataxia</td><td headers="hd_h_ataxias.T.primary_coenzyme_q10_coq10_def_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">COQ10D4; <a href="/books/n/gene/coq10-def/">Primary CoQ<sub>10 </sub>Deficiency</a>; SCAR9 (OMIM <a href="https://omim.org/entry/612016" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">612016</a>)</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">AD = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>; AR = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a>; SNHL = sensorineural hearing loss; SRNS = steroid-resistant nephrotic syndrome</p></div></dd><dt>1. </dt><dd><div id="ataxias.TF.4.1"><p class="no_margin">Genes are listed in alphabetic order.</p></div></dd><dt>2. </dt><dd><div id="ataxias.TF.4.2"><p class="no_margin">
|
||
<a class="bk_pop" href="#ataxias.REF.matsukawa.2024.22">Matsukawa et al [2024]</a>
|
||
</p></div></dd><dt>3. </dt><dd><div id="ataxias.TF.4.3"><p class="no_margin">Onset usually in infancy or early childhood</p></div></dd></dl></div></div></div></div></div><div id="ataxias.Evaluation_Strategies_to_Identif"><h2 id="_ataxias_Evaluation_Strategies_to_Identif_">3. Evaluation Strategies to Identify the Genetic Cause of Hereditary Ataxia in a Proband</h2><p>Establishing a specific genetic cause of primary hereditary ataxia (as defined in this chapter):</p><ul><li class="half_rhythm"><div>Can aid in discussions of prognosis (which are beyond the scope of this <i>GeneReview</i>) and <a href="#ataxias.Genetic_Counseling_of_Family_Mem">genetic counseling</a>;</div></li><li class="half_rhythm"><div>Usually involves a medical history, physical examination, family history, and <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a>/genetic testing.</div></li></ul><div id="ataxias.Medical_History"><h3>Medical History</h3><p>Most of the common primary hereditary ataxias start similarly with an unsteady gait, imbalance or "dizziness," unexpected falls, clumsiness, and tremors.</p><p>Distinctive features of the medical history that could suggest a specific diagnosis (see <a href="/books/NBK1138/table/ataxias.T.hereditary_ataxias_caused_by_n/?report=objectonly" target="object" rid-ob="figobataxiasThereditaryataxiascausedbyn">Table 1</a> and <a href="/books/NBK1138/table/ataxias.T.most_common_hereditary_ataxias/?report=objectonly" target="object" rid-ob="figobataxiasTmostcommonhereditaryataxias">Table 2</a>) include the following:</p><ul><li class="half_rhythm"><div>Age of onset:</div><ul><li class="half_rhythm"><div>After age 50 years: SCA6</div></li><li class="half_rhythm"><div>Before age 20 years: Friedreich ataxia, ataxia with oculomotor apraxia types 1 and 2</div></li><li class="half_rhythm"><div>Before age five years: ataxia-telangiectasia</div></li><li class="half_rhythm"><div>Infantile: SCA2, SCA7</div></li></ul></li><li class="half_rhythm"><div>Onset with episodic features: SCA6, the episodic ataxias</div></li><li class="half_rhythm"><div>Associated with:</div><ul><li class="half_rhythm"><div>Retinopathy: SCA7</div></li><li class="half_rhythm"><div>Seizure disorder: SCA10, infantile-onset SCA7, DRPLA</div></li><li class="half_rhythm"><div>Dementia: SCA2, SCA17, DRPLA</div></li><li class="half_rhythm"><div>Severe dizziness or vertigo: SCA3, SCA6, <i>RFC1</i> CANVAS / spectrum disorder</div></li><li class="half_rhythm"><div>Muscle cramping: SCA2, SCA3</div></li><li class="half_rhythm"><div>Scoliosis, pes cavus, cardiomyopathy: Friedreich ataxia</div></li><li class="half_rhythm"><div>Immunodeficiency or cancer: ataxia-telangiectasia</div></li></ul></li></ul></div><div id="ataxias.Physical_Examination"><h3>Physical Examination</h3><p>All the primary hereditary ataxias have cerebellar features, but some have specific cerebellar or extracerebellar changes on examination that can suggest a specific diagnosis (see <a href="/books/NBK1138/table/ataxias.T.hereditary_ataxias_caused_by_n/?report=objectonly" target="object" rid-ob="figobataxiasThereditaryataxiascausedbyn">Table 1</a> and <a href="/books/NBK1138/table/ataxias.T.most_common_hereditary_ataxias/?report=objectonly" target="object" rid-ob="figobataxiasTmostcommonhereditaryataxias">Table 2</a>). In addition to the information provided in the medical history above, the following may be observed:</p><ul><li class="half_rhythm"><div>Early presence of slowed oculomotor saccades: SCA2, SCA7</div></li><li class="half_rhythm"><div>Ophthalmoplegia: SCA1, SCA2, SCA3</div></li><li class="half_rhythm"><div>Oculomotor apraxia: ataxia-telangiectasia, ataxia with oculomotor apraxia types 1 and 2</div></li><li class="half_rhythm"><div>Fixation instability (saccade intrusions) in primary gaze: Friedreich ataxia</div></li><li class="half_rhythm"><div>Ocular conjunctival and skin telangiectases: ataxia-telangiectasia</div></li><li class="half_rhythm"><div>Downbeat nystagmus: SCA6 and episodic ataxia type 2</div></li><li class="half_rhythm"><div>Central or peripheral vestibular involvement: SCA3, SCA6, <i>RFC1</i> CANVAS / spectrum disorder</div></li><li class="half_rhythm"><div>Motor unit fasciculations: SCA2, SCA3</div></li><li class="half_rhythm"><div>Peripheral neuropathy: SCA3, <i>RFC1</i> CANVAS / spectrum disorder</div></li><li class="half_rhythm"><div>Spasticity: SCA1, SCA3, SCA7</div></li><li class="half_rhythm"><div>Extrapyramidal signs: SCA1, SCA2, SCA3, SCA17, DRPLA</div></li><li class="half_rhythm"><div>Absent deep tendon reflexes and upgoing toes: Friedreich ataxia</div></li></ul></div><div id="ataxias.Family_History"><h3>Family History</h3><p>A three-generation family history should be taken with attention to relatives with manifestations of hereditary ataxia and documentation of relevant findings through direct examination or review of medical records, including results of <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a>, neuroimaging studies, and autopsy examinations. Findings in the family that may assist in narrowing the scope of relevant hereditary ataxias include the following:</p><ul><li class="half_rhythm"><div>Earlier onset and increasing severity of disease in subsequent generations suggest an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> <a class="def" href="/books/n/gene/glossary/def-item/nucleotide-repeat/">nucleotide repeat</a> disorder associated with <a class="def" href="/books/n/gene/glossary/def-item/anticipation/">anticipation</a> (see <a href="/books/NBK1138/table/ataxias.T.hereditary_ataxias_caused_by_n/?report=objectonly" target="object" rid-ob="figobataxiasThereditaryataxiascausedbyn">Table 1</a>).</div></li><li class="half_rhythm"><div>An affected parent or grandparent suggests <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> inheritance.</div></li><li class="half_rhythm"><div>No male-to-male transmission of the disorder suggests <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> inheritance.</div></li><li class="half_rhythm"><div>Affected sibs or <a class="def" href="/books/n/gene/glossary/def-item/consanguinity/">consanguinity</a> suggests <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> inheritance. Note: In communities with a high prevalence of an autosomal recessive ataxia (e.g., the <a href="/books/n/gene/arsacs/">ARSACS</a> <a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a> frequency in the Saguenay–Lac-Saint-Jean region of Quebec is 1:21), affected individuals in two or more generations may be observed.</div></li><li class="half_rhythm"><div>Late-onset cerebellar ataxia in a grandfather who has a grandson with intellectual disability suggests <a href="/books/n/gene/fragilex/">fragile X-associated tremor/ataxia syndrome</a> in the grandfather.</div></li><li class="half_rhythm"><div>Note: In the absence of a molecularly confirmed ataxia, reports of balance problems in a grandparent, parent, or sib do not necessarily indicate a shared genetic cause. Multifactorial and acquired cerebellar disorders, which are four to five times more common than inherited ataxias, can confuse a family history.</div></li></ul></div><div id="ataxias.Molecular_Genetic_Testing"><h3>Molecular Genetic Testing</h3><p><b>Nucleotide repeat disorders.</b> Establishing the diagnosis in an individual with one of the <a class="def" href="/books/n/gene/glossary/def-item/nucleotide-repeat/">nucleotide repeat</a> disorders (see <a href="/books/NBK1138/table/ataxias.T.hereditary_ataxias_caused_by_n/?report=objectonly" target="object" rid-ob="figobataxiasThereditaryataxiascausedbyn">Table 1</a>) requires identification of an expanded nucleotide repeat and determination of the nucleotide repeat size for each disorder.</p><p>Note that commercially available multigene panels that rely on <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a> alone will not identify these <a class="def" href="/books/n/gene/glossary/def-item/nucleotide-repeat/">nucleotide repeat</a> expansions; thus, specific assays are required to analyze the nucleotide repeat in each <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> of interest. Options offered by some laboratories:</p><ul><li class="half_rhythm"><div>A multigene "repeat expansion" panel to specifically identify <a class="def" href="/books/n/gene/glossary/def-item/nucleotide-repeat/">nucleotide repeat</a> expansions</div></li><li class="half_rhythm"><div>A multigene ataxia panel that combines both repeat expansion testing and sequence-based testing analysis</div></li></ul><p><b>Non-<a class="def" href="/books/n/gene/glossary/def-item/nucleotide-repeat/">nucleotide repeat</a> disorders.</b> Establishing the diagnosis of one of the disorders listed in <a href="/books/NBK1138/table/ataxias.T.most_common_hereditary_ataxias/?report=objectonly" target="object" rid-ob="figobataxiasTmostcommonhereditaryataxias">Table 2</a> requires detection of a sequence variant. Molecular genetic testing approaches can include a combination of <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>-targeted testing (<a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a>) and comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing (<a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a>, <a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a>). Gene-targeted testing requires the clinician to hypothesize which gene(s) are likely involved, whereas genomic testing does not.</p><ul><li class="half_rhythm"><div class="half_rhythm"><b>A "sequence-based" ataxia <a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a></b> is most likely to identify the genetic cause of the condition while limiting identification of variants of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a> and pathogenic variants in genes that do not explain the underlying <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>. Note: (1) The genes included in the panel and the diagnostic <a class="def" href="/books/n/gene/glossary/def-item/sensitivity/">sensitivity</a> of the testing used for each <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> vary by laboratory and are likely to change over time. (2) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused <a class="def" href="/books/n/gene/glossary/def-item/exome/">exome</a> analysis that includes genes specified by the clinician. (3) Methods used in a panel may include <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a>, <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a>, and/or other non-sequencing-based tests. (4) Sequencing-based tests including <a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a> do not readily detect <a class="def" href="/books/n/gene/glossary/def-item/nucleotide-repeat/">nucleotide repeat</a> expansions.</div><div class="half_rhythm">For an introduction to multigene panels click <a href="/books/n/gene/app5/#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/#app5.Multigene_Panels_FAQs">here</a>.</div></li><li class="half_rhythm"><div class="half_rhythm"><b>Comprehensive</b>
|
||
<b><a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing</b> is an option that does not require the clinician to determine which <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>(s) are likely involved. <b>Exome sequencing</b> is most commonly used; <b><a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a></b> is also possible. Note that sequencing-based tests including <a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a> do not readily detect <a class="def" href="/books/n/gene/glossary/def-item/nucleotide-repeat/">nucleotide repeat</a> expansions.</div><div class="half_rhythm">For an introduction to comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing click <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing_1">here</a>.</div></li></ul></div></div><div id="ataxias.Management_of_Hereditary_Ataxia"><h2 id="_ataxias_Management_of_Hereditary_Ataxia_">4. Management of Hereditary Ataxia</h2><div id="ataxias.Evaluations_Following_Initial_Di"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and needs of an individual diagnosed with a hereditary ataxia, the evaluations summarized in <a href="/books/NBK1138/table/ataxias.T.recommended_evaluations_follow/?report=objectonly" target="object" rid-ob="figobataxiasTrecommendedevaluationsfollow">Table 5</a> (if not performed as part of the evaluation that led to the diagnosis) are recommended.</p><div id="ataxias.T.recommended_evaluations_follow" class="table"><h3><span class="label">Table 5. </span></h3><div class="caption"><p>Recommended Evaluations Following Initial Diagnosis in Individuals with a Hereditary Ataxia</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1138/table/ataxias.T.recommended_evaluations_follow/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__ataxias.T.recommended_evaluations_follow_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System</th><th id="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_1" rowspan="2" scope="rowgroup" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Neurologic</b>
|
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</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assessment by neurologist for:
|
||
<ul><li class="half_rhythm"><div>Cerebellar motor dysfunction (gait & postural ataxia, dysmetria, dysdiadochokinesis, tremor, dysarthria, nystagmus, saccades, & smooth pursuit)</div></li><li class="half_rhythm"><div>UMN &/or LMN dysfunction (weakness, spasticity, Babinski signs, hyperreflexia, amyotrophy, fasciculations)</div></li><li class="half_rhythm"><div>Vibration loss or polyneuropathy based on clinical findings</div></li></ul>
|
||
</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Use standardized scale to establish baseline for ataxia (SARA). <sup>1</sup></div></li><li class="half_rhythm"><div>Consider electrophysiologic studies (EMG & NCS) to detect neurogenic changes or signs of neuropathy.</div></li><li class="half_rhythm"><div>Brain MRI to evaluate presence & severity of cerebellar atrophy</div></li></ul>
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</td></tr><tr><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Refer to neuromuscular clinic (OT & PT / rehab specialist).</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To assess gross motor & fine motor skills, ambulation, & need for adaptive devices & PT</td></tr><tr><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Speech</b>
|
||
</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">For those w/dysarthria &/or other speech-language difficulties</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Refer to SLP.</td></tr><tr><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Feeding</b>
|
||
</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">For those w/frequent choking or severe dysphagia, assess nutritional status & aspiration risk.</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider involving a gastroenterology/nutrition/feeding team.</td></tr><tr><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Respiratory</b>
|
||
</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">For those w/respiratory symptoms or muscular involvement, obtain pulmonary function tests & sleep study.</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider involving pulmonary specialist & sleep specialist.</td></tr><tr><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<b>Cognitive/</b>
|
||
<br />
|
||
<b>Psychiatric</b>
|
||
</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess for cognitive dysfunction assoc w/cerebellar cognitive & affective syndrome (executive function, language processing, visuospatial/visuoconstructional skills, emotion regulation).</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider use of:
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||
<ul><li class="half_rhythm"><div>CCAS scale <sup>2</sup> to evaluate cognitive & emotional involvement;</div></li><li class="half_rhythm"><div>Psychiatrist, psychologist, neuropsychologist if needed.</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Musculoskeletal</b>
|
||
</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess for skeletal involvement, mainly scoliosis & pes cavus.</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider involving orthopedic specialist or orthotics specialist.</td></tr><tr><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Genetic counseling</b>
|
||
</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">By genetics professionals <sup>3</sup></td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To inform affected persons & their families re nature, MOI, & implications of their diagnosis to facilitate medical & personal decision making</td></tr><tr><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Family support</b>
|
||
<br />
|
||
<b>& resources</b>
|
||
</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">By clinicians, wider care team, & family support organizations</td><td headers="hd_h_ataxias.T.recommended_evaluations_follow_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assessment of family & social structure to determine need for:
|
||
<ul><li class="half_rhythm"><div>Community or <a href="#ataxias.Resources">online resources</a> such as <a href="https://www.p2pusa.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Parent to Parent</a></div></li><li class="half_rhythm"><div>Social work involvement for parental support</div></li><li class="half_rhythm"><div>Home nursing referral</div></li></ul>
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||
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">CCAS = cerebellar cognitive affective syndrome; EMG = electromyogram; LMN = lower motor neuron; NCS = nerve conduction study; OT = occupational therapy/therapist; PT = physical therapy/therapist; SARA = Scale for the Assessment and Rating of Ataxia; SLP = speech-language pathologist; UMN = upper motor neuron</p></div></dd><dt>1. </dt><dd><div id="ataxias.TF.5.1"><p class="no_margin">
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<a class="bk_pop" href="#ataxias.REF.schmitzh_bsch.2006.1717">Schmitz-Hübsch et al [2006]</a>
|
||
</p></div></dd><dt>2. </dt><dd><div id="ataxias.TF.5.2"><p class="no_margin">
|
||
<a class="bk_pop" href="#ataxias.REF.hoche.2018.248">Hoche et al [2018]</a>
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||
</p></div></dd><dt>3. </dt><dd><div id="ataxias.TF.5.3"><p class="no_margin">Clinical geneticist, certified genetic counselor, certified genetic nurse, genetics advanced practice provider (nurse practitioner or physician assistant)</p></div></dd></dl></div></div></div></div><div id="ataxias.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p>The goals of supportive care are to maximize function and reduce complications. Depending on the clinical manifestations, affected individuals benefit from supportive care by a multidisciplinary team of specialists including neurologists, occupational therapists, physical therapists, physiatrists, orthopedists, nutritionists, speech-language pathologists, pulmonologists, and mental health specialists.</p><div id="ataxias.T.treatment_of_manifestations_in" class="table"><h3><span class="label">Table 6. </span></h3><div class="caption"><p>Treatment of Manifestations in Individuals with a Hereditary Ataxia</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1138/table/ataxias.T.treatment_of_manifestations_in/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__ataxias.T.treatment_of_manifestations_in_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Manifestation</th><th id="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Treatment</th><th id="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Considerations/Other</th></tr></thead><tbody><tr><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_1" rowspan="3" scope="rowgroup" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Ataxia</b>
|
||
</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Care by physiatrist, OT/PT</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Consider adaptive devices to maintain/improve independence in mobility (e.g., canes, walkers, ramps to accommodate motorized chairs), feeding (e.g., weighted eating utensils), & dressing (e.g., dressing hooks).</div></li><li class="half_rhythm"><div>PT (balance exercises, gait training, muscle strengthening) to maintain mobility & function <sup>1</sup></div></li><li class="half_rhythm"><div>OT to optimize ADL</div></li><li class="half_rhythm"><div>Inpatient rehab w/OT/PT may improve ataxia & functional abilities in persons w/degenerative ataxias. <sup>2, 3</sup></div></li><li class="half_rhythm"><div>Weight control to avoid obesity</div></li><li class="half_rhythm"><div>Home adaptations to prevent falls (e.g., grab bars, raised toilet seats)</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Pharmacologic treatment</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider riluzole (100 mg/d <sup>3</sup>), the only drug shown to improve ataxia symptoms in persons w/ataxia of mixed etiologies; use requires monitoring of liver enzymes.</td></tr><tr><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Transcranial magnetic stimulation</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider transcranial magnetic stimulation over cerebellum, <sup>2</sup> which may improve cerebellar motor signs after 21 daily treatments (tested in persons w/various causes of spinocerebellar degeneration).</td></tr><tr><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>UMN involvement (spasticity)</b>
|
||
</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Pharmacologic treatment</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Baclofen, tizanidine, or dantrolene may relieve muscle spasms & spasticity.</td></tr><tr><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Dysarthria</b>
|
||
</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Speech-language therapy</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider alternative communication methods as needed (e.g., writing pads & digital devices).</td></tr><tr><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Dysphagia</b>
|
||
</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Modify food consistency to ↓ aspiration risk.</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Video esophagram may help define best consistency.</td></tr><tr><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Poor weight gain</b>
|
||
</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Nutrition assessment</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider nutritional & vitamin supplementation to meet dietary needs.</td></tr><tr><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Scoliosis / Skeletal involvement</b>
|
||
</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Surgical treatment</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Refer to orthopedic surgeon when required.</td></tr><tr><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_1" rowspan="2" scope="rowgroup" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Cognitive/</b>
|
||
<br />
|
||
<b>Psychiatric</b>
|
||
</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Pharmacologic treatment</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard treatment for psychiatric manifestations (e.g., depression, anxiety, & psychosis)</td></tr><tr><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Psychotherapy / neuropsychological rehab</td><td headers="hd_h_ataxias.T.treatment_of_manifestations_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Consider cognitive & behavioral therapy, incl Goal Management Training<sup>®</sup>. <sup>4</sup></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">ADL = activities of daily living; OT = occupational therapy/therapist; PT = physical therapy/therapist; UMN = upper motor neuron</p></div></dd><dt>1. </dt><dd><div id="ataxias.TF.6.1"><p class="no_margin">
|
||
<a class="bk_pop" href="#ataxias.REF.martineau.2014.300">Martineau et al [2014]</a>
|
||
</p></div></dd><dt>2. </dt><dd><div id="ataxias.TF.6.2"><p class="no_margin">
|
||
<a class="bk_pop" href="#ataxias.REF.zesiewicz.2018.464">Zesiewicz et al [2018]</a>
|
||
</p></div></dd><dt>3. </dt><dd><div id="ataxias.TF.6.3"><p class="no_margin">
|
||
<a class="bk_pop" href="#ataxias.REF.van_de_warrenburg.2014.552">van de Warrenburg et al [2014]</a>
|
||
</p></div></dd><dt>4. </dt><dd><div id="ataxias.TF.6.4"><p class="no_margin">
|
||
<a class="bk_pop" href="#ataxias.REF.ruffieux.2017.180">Ruffieux et al [2017]</a>
|
||
</p></div></dd></dl></div></div></div></div><div id="ataxias.Surveillance"><h3>Surveillance</h3><p>There are no published surveillance guidelines for hereditary ataxias in general.</p><div id="ataxias.T.recommended_surveillance_for_i" class="table"><h3><span class="label">Table 7. </span></h3><div class="caption"><p>Recommended Surveillance for Individuals with a Hereditary Ataxia</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1138/table/ataxias.T.recommended_surveillance_for_i/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__ataxias.T.recommended_surveillance_for_i_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Frequency</th></tr></thead><tbody><tr><td headers="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Neurologic</b>
|
||
</td><td headers="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Neurologic assessment for progression of ataxia, UMN or LMN signs, & history of falls</div></li><li class="half_rhythm"><div>Monitor ataxia progression w/standardized scale (SARA). <sup>1</sup></div></li><li class="half_rhythm"><div>Physiatry, OT/PT assessment of mobility, & self-help skills as they relate to ataxia, spasticity, & weakness</div></li></ul>
|
||
</td><td headers="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Annually; more often for an acute exacerbation</td></tr><tr><td headers="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Dysarthria</b>
|
||
</td><td headers="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Need for alternative communication method or speech therapy</td><td headers="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_3" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Per symptom progression</td></tr><tr><td headers="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Dysphagia</b>
|
||
</td><td headers="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess aspiration risk & feeding methods.</td></tr><tr><td headers="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Cognitive/</b>
|
||
<br />
|
||
<b>Psychiatric</b>
|
||
</td><td headers="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluate mood, signs of psychosis, & cognitive complaints to identify need for pharmacologic & psychotherapeutic interventions.</td><td headers="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Per symptom progression & development of psychiatric symptoms</td></tr><tr><td headers="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Family/</b>
|
||
<br />
|
||
<b>Community</b>
|
||
</td><td headers="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> if new questions arise (e.g., family planning).</td><td headers="hd_h_ataxias.T.recommended_surveillance_for_i_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">At each visit</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">LMN = lower motor neuron; OT = occupational therapy; PT = physical therapy; SARA = Scale for the Assessment and Rating of Ataxia; UMN = upper motor neuron</p></div></dd><dt>1. </dt><dd><div id="ataxias.TF.7.1"><p class="no_margin">
|
||
<a class="bk_pop" href="#ataxias.REF.schmitzh_bsch.2006.1717">Schmitz-Hübsch et al [2006]</a>
|
||
</p></div></dd></dl></div></div></div></div></div><div id="ataxias.Genetic_Counseling_of_Family_Mem"><h2 id="_ataxias_Genetic_Counseling_of_Family_Mem_">5. Genetic Counseling of Family Members of an Individual with Hereditary Ataxia</h2><p>
|
||
<i>Genetic counseling is the process of providing individuals and families with
|
||
information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
|
||
make informed medical and personal decisions. The following section deals with genetic
|
||
risk assessment and the use of family history and genetic testing to clarify genetic
|
||
status for family members; it is not meant to address all personal, cultural, or
|
||
ethical issues that may arise or to substitute for consultation with a genetics
|
||
professional</i>. —ED.</p><div id="ataxias.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p>The hereditary ataxias included in this overview can be inherited in an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>, <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>, or <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> manner. Genetic counseling and risk assessment depend on determination of the specific cause of an inherited ataxia in an individual.</p><p>For hereditary ataxias that are <a class="def" href="/books/n/gene/glossary/def-item/nucleotide-repeat/">nucleotide repeat</a> disorders, select the relevant link to the <i>GeneReview</i> chapter (if available) in <a href="/books/NBK1138/table/ataxias.T.hereditary_ataxias_caused_by_n/?report=objectonly" target="object" rid-ob="figobataxiasThereditaryataxiascausedbyn">Table 1</a> for <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> issues.</p><p>The <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> issues for the other common hereditary ataxias (see <a href="/books/NBK1138/table/ataxias.T.most_common_hereditary_ataxias/?report=objectonly" target="object" rid-ob="figobataxiasTmostcommonhereditaryataxias">Table 2</a>) are discussed below.</p></div><div id="ataxias.Autosomal_Dominant_Inheritance"><h3>Autosomal Dominant Inheritance – Risk to Family Members</h3><p>
|
||
<b>Parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div>Most individuals diagnosed with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> hereditary ataxia have an affected parent.</div></li><li class="half_rhythm"><div>Some individuals diagnosed with hereditary ataxia have the disorder as the result of a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</div></li><li class="half_rhythm"><div>Molecular genetic testing is recommended for the parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with an apparent <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</div></li><li class="half_rhythm"><div>If the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> identified in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> is not identified in either parent and parental identity testing has confirmed biological maternity and paternity, the following possibilities should be considered:</div><ul><li class="half_rhythm"><div>The <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</div></li><li class="half_rhythm"><div>The <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> inherited a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> from a parent with <a class="def" href="/books/n/gene/glossary/def-item/germline/">germline</a> (or somatic and germline) <a class="def" href="/books/n/gene/glossary/def-item/mosaicism/">mosaicism</a>. Note: Testing of parental leukocyte DNA may not detect all instances of <a class="def" href="/books/n/gene/glossary/def-item/somatic-mosaicism/">somatic mosaicism</a> and will not detect a pathogenic variant that is present in the germ cells only.</div></li></ul></li><li class="half_rhythm"><div>The family history of some individuals diagnosed with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> hereditary ataxia may appear to be negative because of failure to recognize the disorder in family members, early death of the parent before onset of symptoms, or late onset of the disease in the affected parent. Therefore, an apparently negative family history cannot be confirmed unless <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> has demonstrated that neither parent is <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> identified in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</div></li></ul><p><b>Sibs of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> The risk to the sibs of the proband depends on the clinical/genetic status of the proband's parents:</p><ul><li class="half_rhythm"><div>If a parent of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> is affected and/or is known to have the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> identified in the proband, the risk to sibs is 50%.</div></li><li class="half_rhythm"><div>If the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> found in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> cannot be detected in the leukocyte DNA of either parent, the <a class="def" href="/books/n/gene/glossary/def-item/recurrence-risk/">recurrence risk</a> to sibs is slightly greater than that of the general population because of the possibility of parental <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>. (Note: Parental mosaicism has been reported in SCA29 [<a class="bk_pop" href="#ataxias.REF.ngo.2019.14">Ngo et al 2019</a>] and other rarer ataxias.)</div></li><li class="half_rhythm"><div>If the parents have not been tested for the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> but are clinically unaffected, sibs are still presumed to be at increased risk for hereditary ataxia because of the possibility of age-related <a class="def" href="/books/n/gene/glossary/def-item/penetrance/">penetrance</a> in a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> parent or the possibility of parental <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>.</div></li></ul><p><b>Offspring of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> Each child of an individual with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> hereditary ataxia has a 50% chance of inheriting the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</p><p><b>Other family members.</b> The risk to other family members depends on the status of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>'s parents: if a parent has the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, the parent's family members may be at risk.</p></div><div id="ataxias.Autosomal_Recessive_Inheritance"><h3>Autosomal Recessive Inheritance – Risk to Family Members</h3><p>
|
||
<b>Parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div>The parents of an individual diagnosed with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> hereditary ataxia are presumed to be <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</div></li><li class="half_rhythm"><div>Molecular genetic testing is recommended for the parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> to confirm that both parents are <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> and to allow reliable <a class="def" href="/books/n/gene/glossary/def-item/recurrence-risk/">recurrence risk</a> assessment.</div></li><li class="half_rhythm"><div>If a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, it is possible that one of the pathogenic variants identified in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> occurred as a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> event in the proband or as a <a class="def" href="/books/n/gene/glossary/def-item/postzygotic/">postzygotic</a> <i>de novo</i> event in a mosaic parent [<a class="bk_pop" href="#ataxias.REF.j_nsson.2017.519">Jónsson et al 2017</a>]. If the proband appears to have <a class="def" href="/books/n/gene/glossary/def-item/homozygous/">homozygous</a> pathogenic variants (i.e., the same two pathogenic variants), additional possibilities to consider include:</div><ul><li class="half_rhythm"><div>A single- or multiexon <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> that was not detected by <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a> and that resulted in the artifactual appearance of homozygosity;</div></li><li class="half_rhythm"><div>Uniparental isodisomy for the parental <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> with the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> that resulted in homozygosity for the pathogenic variant in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</div></li></ul></li><li class="half_rhythm"><div>Heterozygotes (carriers) are not at risk of developing <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> hereditary ataxia. (Note: Individuals who are <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for an <i>ATM</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> are at increased risk for cancer and coronary artery disease; see <a href="/books/n/gene/ataxia-telangiectas/">Ataxia-Telangiectasia</a>.)</div></li></ul><p>
|
||
<b>Sibs of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div>If both parents are known to be <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being heterozygous, and a 25% chance of inheriting neither of the <a class="def" href="/books/n/gene/glossary/def-item/familial/">familial</a> pathogenic variants.</div></li><li class="half_rhythm"><div>Heterozygotes (carriers) are not at risk of developing <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> hereditary ataxia. (Note: Individuals who are <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for an <i>ATM</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> are at increased risk for cancer and coronary artery disease; see <a href="/books/n/gene/ataxia-telangiectas/">Ataxia-Telangiectasia</a>.)</div></li></ul><p><b>Offspring of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> The offspring of an individual with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> hereditary ataxia are obligate heterozygotes (carriers) for a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</p><p><b>Other family members.</b> Each sib of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>'s parents is at a 50% risk of being a <a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a> of a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</p><p><b>Carrier detection.</b> Carrier testing for at-risk relatives requires prior identification of the ataxia-related pathogenic variants in the family.</p></div></div><div id="ataxias.Resources"><h2 id="_ataxias_Resources_">Resources</h2><p>
|
||
<i>GeneReviews staff has selected the following disease-specific and/or umbrella
|
||
support organizations and/or registries for the benefit of individuals with this disorder
|
||
and their families. GeneReviews is not responsible for the information provided by other
|
||
organizations. For information on selection criteria, click <a href="/books/n/gene/app4/">here</a>.</i></p>
|
||
<ul><li class="half_rhythm"><div>
|
||
<b>Ataxia UK</b>
|
||
</div><div>United Kingdom</div><div><b>Phone:</b> 0800 995 6037; +44 (0) 20 7582 1444 (from abroad)</div><div><b>Email:</b> help@ataxia.org.uk</div><div>
|
||
<a href="https://www.ataxia.org.uk" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ataxia.org.uk</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>National Ataxia Foundation</b>
|
||
</div><div><b>Phone:</b> 763-553-0020</div><div><b>Email:</b> naf@ataxia.org</div><div>
|
||
<a href="https://www.ataxia.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ataxia.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>Spanish Ataxia Federation (FEDAES)</b>
|
||
</div><div>Spain</div><div><b>Phone:</b> 601 037 982</div><div><b>Email:</b> info@fedaes.org</div><div>
|
||
<a href="https://fedaes.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">fedaes.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>Associazione Italiana per la lotta alle Sindromi Atassiche (AISA)</b>
|
||
</div><div>Via Sara 12</div><div> 16039 </div><div>Italy</div><div><b>Phone:</b> 39 342 9124574</div><div><b>Email:</b> nazionale@atassia.it</div><div>
|
||
<a href="https://atassia.it/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.atassia.it</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>A-T Children's Project</b>
|
||
</div><div>Ataxia-Telangiectasia Children's Project</div><div><b>Phone:</b> 800.5.HELP.A-T (800.543.5728); 954-481-6611</div><div>
|
||
<a href="https://www.atcp.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.atcp.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>euro-ATAXIA (European Federation of Hereditary Ataxias)</b>
|
||
</div><div>United Kingdom</div><div><b>Email:</b> ageorgousis@ataxia.org.uk</div><div>
|
||
<a href="https://www.euroataxia.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">euroataxia.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>FARA</b>
|
||
</div><div>Friedreich's Ataxia Research Alliance</div><div><b>Phone:</b> 484-879-6160</div><div><b>Fax:</b> 484-872-1402</div><div><b>Email:</b> info@CureFA.org</div><div>
|
||
<a href="http://www.curefa.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">CureFA.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>NCBI Genes and Disease</b>
|
||
</div><div>
|
||
<a href="https://www.ncbi.nlm.nih.gov/books/NBK22234/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Spinocerebellar ataxia</a>
|
||
</div></li></ul>
|
||
</div><div id="ataxias.Chapter_Notes"><h2 id="_ataxias_Chapter_Notes_">Chapter Notes</h2><div id="ataxias.Author_Notes"><h3>Author Notes</h3><p>As a Clinical Professor of Neurology, Dr Perlman is involved in the diagnosis and treatment of cerebellar ataxia and other neurogenetic disorders. She conducts research on collaborative natural history, biomarker, and clinical trials in spinocerebellar ataxia, Friedreich ataxia, ataxia-telangiectasia, late-onset Tay-Sachs disease, and Huntington disease.</p><p>Dr Perlman can be reached at:</p><p>UCLA Neurology Services<br />300 UCLA Medical Plaza, Suite B200, Los Angeles, CA, 90095<br />Phone: 310-794-1195<br />Fax: 310-794-7491<br />Web page: <a href="https://www.uclahealth.org/neurology/neurogenetics" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.uclahealth.org/neurology/neurogenetics</a></p></div><div id="ataxias.Acknowledgments"><h3>Acknowledgments</h3><p>The author acknowledges the following organizations and people:</p><ul><li class="half_rhythm"><div>National Ataxia Foundation, sponsor of grants for collaborative natural history and biomarker studies</div></li><li class="half_rhythm"><div>Friedreich's Ataxia Research Alliance, sponsor of grants for collaborative natural history and biomarker studies</div></li><li class="half_rhythm"><div>The Smith Family Foundation, the Lapin Family Fund, the Bettencourt Fund, the John Paul Jr. Fund, and the Wapner Fund</div></li><li class="half_rhythm"><div>Our patients and their families, for their willingness to work with us and to share with us their ideas and hopes</div></li></ul></div><div id="ataxias.Author_History"><h3>Author History</h3><p>Thomas D Bird, MD; University of Washington (1998-2022)<br />Susan Perlman, MD (2022-present)</p></div><div id="ataxias.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>20 February 2025 (bp) Revision: SCA4 added to <a href="/books/NBK1138/table/ataxias.T.hereditary_ataxias_caused_by_n/?report=objectonly" target="object" rid-ob="figobataxiasThereditaryataxiascausedbyn">Table 1</a>; targeted therapy for Friedreich ataxia (omaveloxolone)</div></li><li class="half_rhythm"><div>12 September 2024 (aa) Revision: deleted Hereditary Ataxias Caused by Nucleotide Repeat Expansions: Molecular Genetics table</div></li><li class="half_rhythm"><div>16 November 2023 (bp) Revision: added <i>FGF14</i> to <a href="/books/NBK1138/table/ataxias.T.hereditary_ataxias_caused_by_n/?report=objectonly" target="object" rid-ob="figobataxiasThereditaryataxiascausedbyn">Table 1</a>; deleted <i>COQ6</i> and <i>PDSS1</i> from <a href="/books/NBK1138/table/ataxias.T.primary_coenzyme_q10_coq10_def/?report=objectonly" target="object" rid-ob="figobataxiasTprimarycoenzymeq10coq10def">Table 4</a></div></li><li class="half_rhythm"><div>16 June 2022 (bp) Comprehensive update posted live</div></li><li class="half_rhythm"><div>14 August 2014 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>17 February 2011 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>27 June 2007 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>8 February 2005 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>27 February 2003 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>28 October 1998 (me) Overview posted live</div></li><li class="half_rhythm"><div>23 June 1998 (tb) Original submission</div></li></ul></div></div><div id="ataxias.Literature_Cited"><h2 id="_ataxias_Literature_Cited_">Literature Cited</h2><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="ataxias.REF.brusco.2004.727">Brusco
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H, Sulem
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M, Armani
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M, Pastorello
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E, Nunez
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GF, Lombardi
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MT, Zuliani
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CP. Prevalence of inherited ataxias in the province of Padua, Italy.
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|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=2332[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">FMR1</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=472[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">ATM</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=10939[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">AFG3L2</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6315[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">ATXN8OS</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=23345[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">SYNE1</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=785[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">CACNB4</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6843[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">VAMP1</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=54840[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">APTX</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6314[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">ATXN7</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6908[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">TBP</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=3736[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">KCNA1</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6712[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">SPTBN2</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=26278[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">SACS</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=146057[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">TTBK2</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=5981[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">RFC1</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=87178[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">PNPT1</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6507[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">SLC1A3</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=3752[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">KCND3</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6310[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">ATXN1</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=5521[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">PPP2R2B</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=2395[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">FXN</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=5173[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">PDYN</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=23064[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">SETX</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=1938[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">EEF2</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=3748[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">KCNC3</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=463[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">ZFHX3</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=343641[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">TGM6</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6687[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">SPG7</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=773[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">CACNA1A</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=4287[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">ATXN3</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=724066[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">ATXN8</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=146227[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">BEAN1</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=5582[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">PRKCG</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=25814[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">ATXN10</a>
|
||
</li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Related information</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pmc&DbFrom=books&Cmd=Link&LinkName=books_pmc_refs&IdsFromResult=1470822" ref="log$=recordlinks">PMC</a><div class="brieflinkpop offscreen_noflow">PubMed Central citations</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pubmed&DbFrom=books&Cmd=Link&LinkName=books_pubmed_refs&IdsFromResult=1470822" ref="log$=recordlinks">PubMed</a><div class="brieflinkpop offscreen_noflow">Links to PubMed</div></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Similar articles in PubMed</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PBooksDiscovery_RA" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301334" ref="ordinalpos=1&linkpos=1&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Hereditary Dystonia Overview.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Hereditary Dystonia Overview.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Klein C, Lohmann K, Marras C, Münchau A. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/24501781" ref="ordinalpos=1&linkpos=2&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Leukodystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Leukodystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Vanderver A, Tonduti D, Schiffmann R, Schmidt J, van der Knaap MS. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301690" ref="ordinalpos=1&linkpos=3&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Brugada Syndrome.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Brugada Syndrome.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Brugada R, Campuzano O, Sarquella-Brugada G, Brugada P, Brugada J, Hong K. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301682" ref="ordinalpos=1&linkpos=4&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Hereditary Spastic Paraplegia Overview.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Hereditary Spastic Paraplegia Overview.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Hedera P. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/35685361" ref="ordinalpos=1&linkpos=5&log$=relatedarticles&logdbfrom=pubmed">Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.</a><span class="source">[Comput Struct Biotechnol J. 2022]</span><div class="brieflinkpop offscreen_noflow">Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Selinger M, Věchtová P, Tykalová H, Ošlejšková P, Rumlová M, Štěrba J, Grubhoffer L. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">Comput Struct Biotechnol J. 2022; 20:2759-2777. Epub 2022 May 30.</em></div></div></li></ul><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed_reviews&uid=20301317" ref="ordinalpos=1&log$=relatedreviews_seeall&logdbfrom=pubmed">See reviews...</a><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed&uid=20301317" ref="ordinalpos=1&log$=relatedarticles_seeall&logdbfrom=pubmed">See all...</a></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Recent Activity</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="Shutter"></a></div><div class="portlet_content"><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" id="HTDisplay" class=""><div class="action"><a href="javascript:historyDisplayState('ClearHT')">Clear</a><a href="javascript:historyDisplayState('HTOff')" class="HTOn">Turn Off</a><a href="javascript:historyDisplayState('HTOn')" class="HTOff">Turn On</a></div><ul id="activity"><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d9fef384f3725e59104171">Hereditary Ataxia Overview - GeneReviews®</a><div class="ralinkpop offscreen_noflow">Hereditary Ataxia Overview - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d9feef2f30673f7be3fc8e">SP110 SP110 nuclear body protein [Homo sapiens]</a><div class="ralinkpop offscreen_noflow">SP110 SP110 nuclear body protein [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:3431</div></div><div class="tertiary">Gene</div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d9feeb84f3725e591027c9">F9 coagulation factor IX [Homo sapiens]</a><div class="ralinkpop offscreen_noflow">F9 coagulation factor IX [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:2158</div></div><div class="tertiary">Gene</div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d9fee9cde49f3df7d2922c">F8 coagulation factor VIII [Homo sapiens]</a><div class="ralinkpop offscreen_noflow">F8 coagulation factor VIII [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:2157</div></div><div class="tertiary">Gene</div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d9fee6cde49f3df7d28c97">TNFAIP3 TNF alpha induced protein 3 [Homo sapiens]</a><div class="ralinkpop offscreen_noflow">TNFAIP3 TNF alpha induced protein 3 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:7128</div></div><div class="tertiary">Gene</div></li></ul><p class="HTOn">Your browsing activity is empty.</p><p class="HTOff">Activity recording is turned off.</p><p id="turnOn" class="HTOff"><a href="javascript:historyDisplayState('HTOn')">Turn recording back on</a></p><a class="seemore" href="/sites/myncbi/recentactivity">See more...</a></div></div></div>
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