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<meta name="keywords" content="C1833296, als17, formerly, amyotrophic lateral sclerosis 17, amyotrophic lateral sclerosis 17, formerly, amyotrophic lateral sclerosis caused by mutation in chmp2b, amyotrophic lateral sclerosis, chmp2b-related, chmp2b, chmp2b amyotrophic lateral sclerosis, chmp2b-related amyotrophic lateral sclerosis, chmp2b-related frontotemporal dementia, chromosome 3-linked frontotemporal dementia, dementia, familial nonspecific, disease or syndrome, dmt1, dtm1, frontotemporal dementia and/or amyotrophic lateral sclerosis 7, frontotemporal dementia with gene located on 3p11, frontotemporal dementia, chromosome 3-linked, ftd-3, ftd-chmp2b, ftd3, ftdals7, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="CHMP2B frontotemporal dementia (CHMP2B-FTD) has been described in a single family from Denmark, in one individual with familial FTD from Belgium, and in one individual with FTD and no family history. It typically starts between ages 46 and 65 years with subtle personality changes and slowly progressive behavioral changes, dysexecutive syndrome, dyscalculia, and language disturbances. Disinhibition or loss of initiative is the most common presenting symptom. The disease progresses over a few years into profound dementia with extrapyramidal symptoms and mutism. Several individuals have developed an asymmetric akinetic rigid syndrome with arm and gait dystonia and pyramidal signs that may be related to treatment with neuroleptic drugs. Symptoms and disease course are highly variable. Disease duration may be as short as three years or longer than 20 years." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (Concept Id: C1833296)
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<!--
UID=318833
ConceptID=C1833296
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Frontotemporal dementia and/or amyotrophic lateral sclerosis 7<span class="h1sub">(FTDALS7)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318833</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C1833296</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Amyotrophic lateral sclerosis 17; AMYOTROPHIC LATERAL SCLEROSIS, CHMP2B-RELATED; CHMP2B-related frontotemporal dementia; Frontotemporal Dementia, Chromosome 3-Linked; FTDALS7</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Frontotemporal dementia with gene located on 3p11 (702393003); Chromosome 3-linked frontotemporal dementia (702393003); CHMP2B-related frontotemporal dementia (702393003)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="CHMP2B - ID: 25978 - NCBI Gene" href="/gene/25978" class="medgenPMinfo">CHMP2B</a> (3p11.2)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0010936" target="_blank">MONDO:0010936</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/600795" target="_blank">600795</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">CHMP2B frontotemporal dementia (CHMP2B-FTD) has been described in a single family from Denmark, in one individual with familial FTD from Belgium, and in one individual with FTD and no family history. It typically starts between ages 46 and 65 years with subtle personality changes and slowly progressive behavioral changes, dysexecutive syndrome, dyscalculia, and language disturbances. Disinhibition or loss of initiative is the most common presenting symptom. The disease progresses over a few years into profound dementia with extrapyramidal symptoms and mutism. Several individuals have developed an asymmetric akinetic rigid syndrome with arm and gait dystonia and pyramidal signs that may be related to treatment with neuroleptic drugs. Symptoms and disease course are highly variable. Disease duration may be as short as three years or longer than 20 years. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
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<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Frontotemporal dementia and/or amyotrophic lateral sclerosis-7 (FTDALS7) is an autosomal dominant neurodegenerative disorder characterized by onset of ALS or FTD in adulthood. Some patients have ALS, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency, whereas others have FTD, manifest as behavioral and personality changes, memory loss, cognitive decline, and disinhibition. A few patients may have both phenotypes. Pathology typically shows UBB (191339), p62/sequestosome (SQSTM1; 601530), and TDP43 (605078)-immunoreactive intraneuronal inclusions (summary by Brown et al., 1995 and Cox et al., 2010).&#13;
For a general phenotypic description and a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).  <a target="_blank" href="http://www.omim.org/entry/600795">http://www.omim.org/entry/600795</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />CHMP2B-related frontotemporal dementia is a progressive brain disorder that affects personality, behavior, and language. The symptoms of this disorder usually become noticeable in a person's fifties or sixties, and affected people survive about 3 to 21 years after the appearance of symptoms.<br /><br />Changes in personality and behavior are the most common early signs of CHMP2B-related frontotemporal dementia. These changes include inappropriate emotional responses, restlessness, loss of initiative, and neglect of personal hygiene. Affected individuals may overeat sweet foods or place non-food items into their mouths (hyperorality). Additionally, it may become difficult for affected individuals to interact with others in a socially appropriate manner. They increasingly require help with personal care and other activities of daily living.<br /><br />Many people with CHMP2B-related frontotemporal dementia develop progressive problems with speech and language (aphasia). They may have trouble speaking, although they can often understand others' speech and written text. Affected individuals may also have difficulty using numbers (dyscalculia). In the later stages of the disease, many completely lose the ability to communicate.<br /><br />Several years after signs and symptoms first appear, some people with CHMP2B-related frontotemporal dementia develop problems with movement. These movement abnormalities include rigidity, tremors, uncontrolled muscle tensing (dystonia), and involuntary muscle spasms (myoclonus). As the disease progresses, most affected individuals become unable to walk.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia">https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_22579"><div><strong>Urinary incontinence</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>22579</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0042024</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Loss of the ability to control the urinary bladder leading to involuntary urination.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/22579">Feature record</a> | <a href="/medgen?term=%22Urinary%20incontinence%22%5BClinical%20Features%5D%20OR%2022579%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1375"><div><strong>Aggressive behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0001807</a></dd><dt><span class="dotprefix"></span></dt><dd>Individual Behavior</dd></dl></div></div></div>
<div class="spaceAbove">Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Aggressive%20behavior%22%5BClinical%20Features%5D%20OR%201375%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0013421</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5769"><div><strong>Impulse control disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5769</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0021122</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5769">Feature record</a> | <a href="/medgen?term=%22Impulse%20control%20disorder%22%5BClinical%20Features%5D%20OR%205769%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6476"><div><strong>Mutism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6476</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0026884</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6476">Feature record</a> | <a href="/medgen?term=%22Mutism%22%5BClinical%20Features%5D%20OR%206476%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10234"><div><strong>Myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10234</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0027066</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10234">Feature record</a> | <a href="/medgen?term=%22Myoclonus%22%5BClinical%20Features%5D%20OR%2010234%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_19708"><div><strong>Babinski sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19708</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0034935</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/19708">Feature record</a> | <a href="/medgen?term=%22Babinski%20sign%22%5BClinical%20Features%5D%20OR%2019708%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_21318"><div><strong>Motor stereotypies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21318</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0038271</a></dd><dt><span class="dotprefix"></span></dt><dd>Individual Behavior</dd></dl></div></div></div>
<div class="spaceAbove">Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Motor%20stereotypies%22%5BClinical%20Features%5D%20OR%2021318%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_39083"><div><strong>Apathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39083</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0085632</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39083">Feature record</a> | <a href="/medgen?term=%22Apathy%22%5BClinical%20Features%5D%20OR%2039083%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0151889</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57747"><div><strong>Orofacial dyskinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57747</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0152115</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57747">Feature record</a> | <a href="/medgen?term=%22Orofacial%20dyskinesia%22%5BClinical%20Features%5D%20OR%2057747%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66685"><div><strong>Inappropriate behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66685</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0233522</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66685">Feature record</a> | <a href="/medgen?term=%22Inappropriate%20behavior%22%5BClinical%20Features%5D%20OR%2066685%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_68579"><div><strong>Memory impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68579</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0233794</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/68579">Feature record</a> | <a href="/medgen?term=%22Memory%20impairment%22%5BClinical%20Features%5D%20OR%2068579%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_536043"><div><strong>Anosognosia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>536043</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0234507</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an individual's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/536043">Feature record</a> | <a href="/medgen?term=%22Anosognosia%22%5BClinical%20Features%5D%20OR%20536043%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66817"><div><strong>Personality changes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66817</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0240735</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal shift in patterns of thinking, acting, or feeling.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66817">Feature record</a> | <a href="/medgen?term=%22Personality%20changes%22%5BClinical%20Features%5D%20OR%2066817%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_83266"><div><strong>Frontotemporal dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83266</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0338451</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">In general, frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; 105400) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). Mackenzie et al. (2009, 2010) provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below).&#13; Clinical Variability of Tauopathies&#13; Tauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.&#13; Other neurodegenerative disorders associated with mutations in the MAPT gene include Pick disease (172700) and progressive supranuclear palsy (PSP; 601104).&#13; Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also collectively been termed 'FTDP17' (Lee et al., 2001).&#13; Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.&#13; Genetic Heterogeneity of Frontotemporal Lobar Degeneration&#13; Mutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTD2 (607485), caused by mutation in the GRN gene (138945) on chromosome 17q21; FTDALS7 (600795), caused by mutation in the CHMP2B gene (609512) on chromosome 3p11; inclusion body myopathy with Paget disease and FTD (IBMPFD; 167320), caused by mutation in the VCP gene (601023) on chromosome 9p13; ALS6 (608030), caused by mutation in the FUS gene (137070) on 16p11; ALS10 (612069), caused by mutation in the TARDBP gene (605078) on 1p36; and FTDALS1 (105550), caused by mutation in the C9ORF72 gene (614260) on 9p21.&#13; In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; 104311) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; 607822).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/83266">Feature record</a> | <a href="/medgen?term=%22Frontotemporal%20dementia%22%5BClinical%20Features%5D%20OR%2083266%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_107445"><div><strong>Loss of speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107445</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0542223</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107445">Feature record</a> | <a href="/medgen?term=%22Loss%20of%20speech%22%5BClinical%20Features%5D%20OR%20107445%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0575081</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_452779"><div><strong>Dyscalculia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452779</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0869474</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">A specific learning disability involving mathematics and arithmetic.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/452779">Feature record</a> | <a href="/medgen?term=%22Dyscalculia%22%5BClinical%20Features%5D%20OR%20452779%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_318834"><div><strong>Frontal release signs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318834</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1833297</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/318834">Feature record</a> | <a href="/medgen?term=%22Frontal%20release%20signs%22%5BClinical%20Features%5D%20OR%20318834%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_325386"><div><strong>Hyperorality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325386</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1838320</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/325386">Feature record</a> | <a href="/medgen?term=%22Hyperorality%22%5BClinical%20Features%5D%20OR%20325386%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_342515"><div><strong>Neuronal loss in central nervous system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342515</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1850496</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/342515">Feature record</a> | <a href="/medgen?term=%22Neuronal%20loss%20in%20central%20nervous%20system%22%5BClinical%20Features%5D%20OR%20342515%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_854457"><div><strong>Restlessness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854457</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3887611</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/854457">Feature record</a> | <a href="/medgen?term=%22Restlessness%22%5BClinical%20Features%5D%20OR%20854457%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_854483"><div><strong>Astrocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854483</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3887640</a></dd><dt><span class="dotprefix"></span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Proliferation of astrocytes in the area of a lesion of the central nervous system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/854483">Feature record</a> | <a href="/medgen?term=%22Astrocytosis%22%5BClinical%20Features%5D%20OR%20854483%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1646740"><div><strong>Cerebral cortical atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646740</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551583</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Atrophy of the cortex of the cerebrum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1646740">Feature record</a> | <a href="/medgen?term=%22Cerebral%20cortical%20atrophy%22%5BClinical%20Features%5D%20OR%201646740%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7752"><div><strong>Rigidity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7752</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0026837</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7752">Feature record</a> | <a href="/medgen?term=%22Rigidity%22%5BClinical%20Features%5D%20OR%207752%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rigidity</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aggressive behavior</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_536043" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anosognosia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Astrocytosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Babinski sign</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1646740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cortical atrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_452779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyscalculia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_318834" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontal release signs</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_325386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperorality</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5769" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impulse control disorder</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66685" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inappropriate behavior</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loss of speech</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Memory impairment</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor stereotypies</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6476" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mutism</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342515" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal loss in central nervous system</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57747" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofacial dyskinesia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Personality changes</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854457" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Restlessness</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_22579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Urinary incontinence</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/36244875">Lysosomal functions of progranulin and implications for treatment of frontotemporal dementia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Simon MJ,
Logan T,
DeVos SL,
Di Paolo G</span><br />
<span class="medgenPMjournal">Trends Cell Biol</span>
2023 Apr;33(4):324-339.
Epub 2022 Oct 13
doi: 10.1016/j.tcb.2022.09.006.
<span class="bold">PMID: </span><a href="/pubmed/36244875" target="_blank">36244875</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36396270">Cognitive Impairment in Older Adults: Epidemiology, Diagnosis, and Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez Palmer N,
Trejo Ortega B,
Joshi P</span><br />
<span class="medgenPMjournal">Psychiatr Clin North Am</span>
2022 Dec;45(4):639-661.
Epub 2022 Oct 14
doi: 10.1016/j.psc.2022.07.010.
<span class="bold">PMID: </span><a href="/pubmed/36396270" target="_blank">36396270</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26900156">The Differential Diagnosis and Treatment of Atypical Parkinsonism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Levin J,
Kurz A,
Arzberger T,
Giese A,
Höglinger GU</span><br />
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
2016 Feb 5;113(5):61-9.
doi: 10.3238/arztebl.2016.0061.
<span class="bold">PMID: </span><a href="/pubmed/26900156" target="_blank">26900156</a><a href="/pmc/articles/PMC4782269" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(frontotemporal%20dementia%20and%2For%20amyotrophic%20lateral%20sclerosis%207)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (545)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/35182511">Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Boeve BF,
Boxer AL,
Kumfor F,
Pijnenburg Y,
Rohrer JD</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2022 Mar;21(3):258-272.
doi: 10.1016/S1474-4422(21)00341-0.
<span class="bold">PMID: </span><a href="/pubmed/35182511" target="_blank">35182511</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35039149">Progranulin as a therapeutic target in neurodegenerative diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rhinn H,
Tatton N,
McCaughey S,
Kurnellas M,
Rosenthal A</span><br />
<span class="medgenPMjournal">Trends Pharmacol Sci</span>
2022 Aug;43(8):641-652.
Epub 2022 Jan 15
doi: 10.1016/j.tips.2021.11.015.
<span class="bold">PMID: </span><a href="/pubmed/35039149" target="_blank">35039149</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33188134">Fluid biomarkers in frontotemporal dementia: past, present and future.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Swift IJ,
Sogorb-Esteve A,
Heller C,
Synofzik M,
Otto M,
Graff C,
Galimberti D,
Todd E,
Heslegrave AJ,
van der Ende EL,
Van Swieten JC,
Zetterberg H,
Rohrer JD</span><br />
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
2021 Feb;92(2):204-215.
Epub 2020 Nov 13
doi: 10.1136/jnnp-2020-323520.
<span class="bold">PMID: </span><a href="/pubmed/33188134" target="_blank">33188134</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30925617">Frontotemporal Dementia: A Clinical Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sivasathiaseelan H,
Marshall CR,
Agustus JL,
Benhamou E,
Bond RL,
van Leeuwen JEP,
Hardy CJD,
Rohrer JD,
Warren JD</span><br />
<span class="medgenPMjournal">Semin Neurol</span>
2019 Apr;39(2):251-263.
Epub 2019 Mar 29
doi: 10.1055/s-0039-1683379.
<span class="bold">PMID: </span><a href="/pubmed/30925617" target="_blank">30925617</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26595641">Frontotemporal dementia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bang J,
Spina S,
Miller BL</span><br />
<span class="medgenPMjournal">Lancet</span>
2015 Oct 24;386(10004):1672-82.
doi: 10.1016/S0140-6736(15)00461-4.
<span class="bold">PMID: </span><a href="/pubmed/26595641" target="_blank">26595641</a><a href="/pmc/articles/PMC5970949" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Frontotemporal%20dementia%20and%2For%20amyotrophic%20lateral%20sclerosis%207%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5310)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38081627">Frontotemporal dementia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Medina-Rioja R,
Gonzalez-Calderon G,
Masellis M</span><br />
<span class="medgenPMjournal">CMAJ</span>
2023 Dec 10;195(48):E1660.
doi: 10.1503/cmaj.230407.
<span class="bold">PMID: </span><a href="/pubmed/38081627" target="_blank">38081627</a><a href="/pmc/articles/PMC10718268" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35182511">Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Boeve BF,
Boxer AL,
Kumfor F,
Pijnenburg Y,
Rohrer JD</span><br />
<span class="medgenPMjournal">Lancet Neurol</span>
2022 Mar;21(3):258-272.
doi: 10.1016/S1474-4422(21)00341-0.
<span class="bold">PMID: </span><a href="/pubmed/35182511" target="_blank">35182511</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32526057">Amyotrophic lateral sclerosis: a clinical review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Masrori P,
Van Damme P</span><br />
<span class="medgenPMjournal">Eur J Neurol</span>
2020 Oct;27(10):1918-1929.
Epub 2020 Jul 7
doi: 10.1111/ene.14393.
<span class="bold">PMID: </span><a href="/pubmed/32526057" target="_blank">32526057</a><a href="/pmc/articles/PMC7540334" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28410663">Frontotemporal Dementia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Olney NT,
Spina S,
Miller BL</span><br />
<span class="medgenPMjournal">Neurol Clin</span>
2017 May;35(2):339-374.
doi: 10.1016/j.ncl.2017.01.008.
<span class="bold">PMID: </span><a href="/pubmed/28410663" target="_blank">28410663</a><a href="/pmc/articles/PMC5472209" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26595641">Frontotemporal dementia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bang J,
Spina S,
Miller BL</span><br />
<span class="medgenPMjournal">Lancet</span>
2015 Oct 24;386(10004):1672-82.
doi: 10.1016/S0140-6736(15)00461-4.
<span class="bold">PMID: </span><a href="/pubmed/26595641" target="_blank">26595641</a><a href="/pmc/articles/PMC5970949" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Frontotemporal%20dementia%20and%2For%20amyotrophic%20lateral%20sclerosis%207%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5598)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36805435">Respiratory Strength Training in Amyotrophic Lateral Sclerosis: A Double-Blind, Randomized, Multicenter, Sham-Controlled Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Plowman EK,
Gray LT,
Chapin J,
Anderson A,
Vasilopoulos T,
Gooch C,
Vu T,
Wymer JP</span><br />
<span class="medgenPMjournal">Neurology</span>
2023 Apr 11;100(15):e1634-e1642.
Epub 2023 Feb 20
doi: 10.1212/WNL.0000000000206830.
<span class="bold">PMID: </span><a href="/pubmed/36805435" target="_blank">36805435</a><a href="/pmc/articles/PMC10103108" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36129998">Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miller TM,
Cudkowicz ME,
Genge A,
Shaw PJ,
Sobue G,
Bucelli RC,
Chiò A,
Van Damme P,
Ludolph AC,
Glass JD,
Andrews JA,
Babu S,
Benatar M,
McDermott CJ,
Cochrane T,
Chary S,
Chew S,
Zhu H,
Wu F,
Nestorov I,
Graham D,
Sun P,
McNeill M,
Fanning L,
Ferguson TA,
Fradette S;
VALOR and OLE Working Group</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2022 Sep 22;387(12):1099-1110.
doi: 10.1056/NEJMoa2204705.
<span class="bold">PMID: </span><a href="/pubmed/36129998" target="_blank">36129998</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35532908">Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Oki R,
Izumi Y,
Fujita K,
Miyamoto R,
Nodera H,
Sato Y,
Sakaguchi S,
Nokihara H,
Kanai K,
Tsunemi T,
Hattori N,
Hatanaka Y,
Sonoo M,
Atsuta N,
Sobue G,
Shimizu T,
Shibuya K,
Ikeda K,
Kano O,
Nishinaka K,
Kojima Y,
Oda M,
Komai K,
Kikuchi H,
Kohara N,
Urushitani M,
Nakayama Y,
Ito H,
Nagai M,
Nishiyama K,
Kuzume D,
Shimohama S,
Shimohata T,
Abe K,
Ishihara T,
Onodera O,
Isose S,
Araki N,
Morita M,
Noda K,
Toda T,
Maruyama H,
Furuya H,
Teramukai S,
Kagimura T,
Noma K,
Yanagawa H,
Kuwabara S,
Kaji R;
Japan Early-Stage Trial of Ultrahigh-Dose Methylcobalamin for ALS (JETALS) Collaborators</span><br />
<span class="medgenPMjournal">JAMA Neurol</span>
2022 Jun 1;79(6):575-583.
doi: 10.1001/jamaneurol.2022.0901.
<span class="bold">PMID: </span><a href="/pubmed/35532908" target="_blank">35532908</a><a href="/pmc/articles/PMC9086935" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28674982">Motoneuron Disease: Clinical.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ilieva H,
Maragakis NJ</span><br />
<span class="medgenPMjournal">Adv Neurobiol</span>
2017;15:191-210.
doi: 10.1007/978-3-319-57193-5_7.
<span class="bold">PMID: </span><a href="/pubmed/28674982" target="_blank">28674982</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28144880">Use of Stimulants in Bipolar Disorder.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Perugi G,
Vannucchi G,
Bedani F,
Favaretto E</span><br />
<span class="medgenPMjournal">Curr Psychiatry Rep</span>
2017 Jan;19(1):7.
doi: 10.1007/s11920-017-0758-x.
<span class="bold">PMID: </span><a href="/pubmed/28144880" target="_blank">28144880</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Frontotemporal%20dementia%20and%2For%20amyotrophic%20lateral%20sclerosis%207%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1410)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37379561">Frontotemporal dementia: Past, present, and future.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ulugut H,
Pijnenburg YAL</span><br />
<span class="medgenPMjournal">Alzheimers Dement</span>
2023 Nov;19(11):5253-5263.
Epub 2023 Jun 28
doi: 10.1002/alz.13363.
<span class="bold">PMID: </span><a href="/pubmed/37379561" target="_blank">37379561</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35678399">Behavioral Variant Frontotemporal Dementia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Boeve BF</span><br />
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
2022 Jun 1;28(3):702-725.
doi: 10.1212/CON.0000000000001105.
<span class="bold">PMID: </span><a href="/pubmed/35678399" target="_blank">35678399</a><a href="/pmc/articles/PMC9578563" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30925617">Frontotemporal Dementia: A Clinical Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sivasathiaseelan H,
Marshall CR,
Agustus JL,
Benhamou E,
Bond RL,
van Leeuwen JEP,
Hardy CJD,
Rohrer JD,
Warren JD</span><br />
<span class="medgenPMjournal">Semin Neurol</span>
2019 Apr;39(2):251-263.
Epub 2019 Mar 29
doi: 10.1055/s-0039-1683379.
<span class="bold">PMID: </span><a href="/pubmed/30925617" target="_blank">30925617</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30465257">Inflammation in ALS/FTD pathogenesis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McCauley ME,
Baloh RH</span><br />
<span class="medgenPMjournal">Acta Neuropathol</span>
2019 May;137(5):715-730.
Epub 2018 Nov 21
doi: 10.1007/s00401-018-1933-9.
<span class="bold">PMID: </span><a href="/pubmed/30465257" target="_blank">30465257</a><a href="/pmc/articles/PMC6482122" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25531687">Frontotemporal dementia: diagnosis, deficits and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bott NT,
Radke A,
Stephens ML,
Kramer JH</span><br />
<span class="medgenPMjournal">Neurodegener Dis Manag</span>
2014;4(6):439-54.
doi: 10.2217/nmt.14.34.
<span class="bold">PMID: </span><a href="/pubmed/25531687" target="_blank">25531687</a><a href="/pmc/articles/PMC4824317" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Frontotemporal%20dementia%20and%2For%20amyotrophic%20lateral%20sclerosis%207%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2600)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37379561">Frontotemporal dementia: Past, present, and future.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ulugut H,
Pijnenburg YAL</span><br />
<span class="medgenPMjournal">Alzheimers Dement</span>
2023 Nov;19(11):5253-5263.
Epub 2023 Jun 28
doi: 10.1002/alz.13363.
<span class="bold">PMID: </span><a href="/pubmed/37379561" target="_blank">37379561</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35678399">Behavioral Variant Frontotemporal Dementia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Boeve BF</span><br />
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
2022 Jun 1;28(3):702-725.
doi: 10.1212/CON.0000000000001105.
<span class="bold">PMID: </span><a href="/pubmed/35678399" target="_blank">35678399</a><a href="/pmc/articles/PMC9578563" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30925617">Frontotemporal Dementia: A Clinical Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sivasathiaseelan H,
Marshall CR,
Agustus JL,
Benhamou E,
Bond RL,
van Leeuwen JEP,
Hardy CJD,
Rohrer JD,
Warren JD</span><br />
<span class="medgenPMjournal">Semin Neurol</span>
2019 Apr;39(2):251-263.
Epub 2019 Mar 29
doi: 10.1055/s-0039-1683379.
<span class="bold">PMID: </span><a href="/pubmed/30925617" target="_blank">30925617</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30465257">Inflammation in ALS/FTD pathogenesis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McCauley ME,
Baloh RH</span><br />
<span class="medgenPMjournal">Acta Neuropathol</span>
2019 May;137(5):715-730.
Epub 2018 Nov 21
doi: 10.1007/s00401-018-1933-9.
<span class="bold">PMID: </span><a href="/pubmed/30465257" target="_blank">30465257</a><a href="/pmc/articles/PMC6482122" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25531687">Frontotemporal dementia: diagnosis, deficits and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bott NT,
Radke A,
Stephens ML,
Kramer JH</span><br />
<span class="medgenPMjournal">Neurodegener Dis Manag</span>
2014;4(6):439-54.
doi: 10.2217/nmt.14.34.
<span class="bold">PMID: </span><a href="/pubmed/25531687" target="_blank">25531687</a><a href="/pmc/articles/PMC4824317" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Frontotemporal%20dementia%20and%2For%20amyotrophic%20lateral%20sclerosis%207%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4263)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/35366021">Sleep apnea and the risk of dementia: A systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Guay-Gagnon M,
Vat S,
Forget MF,
Tremblay-Gravel M,
Ducharme S,
Nguyen QD,
Desmarais P</span><br />
<span class="medgenPMjournal">J Sleep Res</span>
2022 Oct;31(5):e13589.
Epub 2022 Apr 2
doi: 10.1111/jsr.13589.
<span class="bold">PMID: </span><a href="/pubmed/35366021" target="_blank">35366021</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34313331">Mini-Mental State Examination (MMSE) for the early detection of dementia in people with mild cognitive impairment (MCI).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Arevalo-Rodriguez I,
Smailagic N,
Roqué-Figuls M,
Ciapponi A,
Sanchez-Perez E,
Giannakou A,
Pedraza OL,
Bonfill Cosp X,
Cullum S</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2021 Jul 27;7(7):CD010783.
doi: 10.1002/14651858.CD010783.pub3.
<span class="bold">PMID: </span><a href="/pubmed/34313331" target="_blank">34313331</a><a href="/pmc/articles/PMC8406467" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33530383">Systematic Review of Therapeutic Physical Exercise in Patients with Amyotrophic Lateral Sclerosis over Time.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ortega-Hombrados L,
Molina-Torres G,
Galán-Mercant A,
Sánchez-Guerrero E,
González-Sánchez M,
Ruiz-Muñoz M</span><br />
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
2021 Jan 26;18(3)
doi: 10.3390/ijerph18031074.
<span class="bold">PMID: </span><a href="/pubmed/33530383" target="_blank">33530383</a><a href="/pmc/articles/PMC7908444" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33136137">Burden of Neurological Disorders Across the US From 1990-2017: A Global Burden of Disease Study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">GBD 2017 US Neurological Disorders Collaborators,
Feigin VL,
Vos T,
Alahdab F,
Amit AML,
Bärnighausen TW,
Beghi E,
Beheshti M,
Chavan PP,
Criqui MH,
Desai R,
Dhamminda Dharmaratne S,
Dorsey ER,
Wilder Eagan A,
Elgendy IY,
Filip I,
Giampaoli S,
Giussani G,
Hafezi-Nejad N,
Hole MK,
Ikeda T,
Owens Johnson C,
Kalani R,
Khatab K,
Khubchandani J,
Kim D,
Koroshetz WJ,
Krishnamoorthy V,
Krishnamurthi RV,
Liu X,
Lo WD,
Logroscino G,
Mensah GA,
Miller TR,
Mohammed S,
Mokdad AH,
Moradi-Lakeh M,
Morrison SD,
Shivamurthy VKN,
Naghavi M,
Nichols E,
Norrving B,
Odell CM,
Pupillo E,
Radfar A,
Roth GA,
Shafieesabet A,
Sheikh A,
Sheikhbahaei S,
Shin JI,
Singh JA,
Steiner TJ,
Stovner LJ,
Wallin MT,
Weiss J,
Wu C,
Zunt JR,
Adelson JD,
Murray CJL</span><br />
<span class="medgenPMjournal">JAMA Neurol</span>
2021 Feb 1;78(2):165-176.
doi: 10.1001/jamaneurol.2020.4152.
<span class="bold">PMID: </span><a href="/pubmed/33136137" target="_blank">33136137</a><a href="/pmc/articles/PMC7607495" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28057713">Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zou ZY,
Zhou ZR,
Che CH,
Liu CY,
He RL,
Huang HP</span><br />
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
2017 Jul;88(7):540-549.
Epub 2017 Jan 5
doi: 10.1136/jnnp-2016-315018.
<span class="bold">PMID: </span><a href="/pubmed/28057713" target="_blank">28057713</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Frontotemporal%20dementia%20and%2For%20amyotrophic%20lateral%20sclerosis%207%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (235)</a></div></div>
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<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<!-- MedGen supplemental column starts here -->
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<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
</div>
<div class="portlet mgSection" id="ID_106">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1833296%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
<li><a href="/gtr/tests?term=C1833296%5bDISCUI%5d&amp;filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
<li><a href="/gtr/tests?term=C1833296%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (32)</a></li>
<li><a href="/gtr/tests?term=C1833296%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1833296%5bDISCUI%5d" target="_blank">See all (32)</a></total></li>
</ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=600795" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Frontotemporal%20dementia%20and/or%20amyotrophic%20lateral%20sclerosis%207" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(frontotemporal%20dementia%20and%2For%20amyotrophic%20lateral%20sclerosis%207)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Frontotemporal%20dementia%20and%2For%20amyotrophic%20lateral%20sclerosis%207%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=609512" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=25978[geneid]" target="_blank">View CHMP2B variations in ClinVar</a></li><li><a href="/nuccore/189095251" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=600795" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/CHMP2B-Related+Frontotemporal+Dementia/7968" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/frontotemporal_dementia_and_or_amyotrophic_lateral_sclerosis_7" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Frontotemporal%20dementia%20and/or%20amyotrophic%20lateral%20sclerosis%207" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15322/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed/20301378" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=1&amp;linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<li>
<a href="/pubmed/20301623" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<li>
<a href="/pubmed/clinical?term=Frontotemporal%20dementia%20and/or%20amyotrophic%20lateral%20sclerosis%207" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=3&amp;linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Frontotemporal%20dementia%20and/or%20amyotrophic%20lateral%20sclerosis%207%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=4&amp;linkpostotal=4" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=318833" ref="log$=recordlinks">ClinVar</a>
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=318833" ref="log$=recordlinks">Gene</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1833296[DISCUI]" ref="log$=recordlinks">GTR</a>
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1833296[DISCUI]&amp;test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&amp;from_uid=318833" ref="log$=recordlinks">MeSH</a>
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&amp;from_uid=318833" ref="log$=recordlinks">NCBI Bookshelf</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
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