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<meta name="keywords" content="C4225186, autosomal recessive early-onset parkinson disease 23, autosomal recessive early-onset parkinson's disease 23, autosomal recessive early-onset parksinson disease type 23, disease or syndrome, park23, parkinson disease 23, autosomal recessive early-onset, parkinson disease 23, autosomal recessive, early onset, vps13c, vps13c young-onset parkinson disease, young-onset parkinson disease caused by mutation in vps13c, 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="Parkinson disease-23 (PARK23) is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by Lesage et al., 2016)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=896607
|
||
ConceptID=C4225186
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal recessive early-onset Parkinson disease 23<span class="h1sub">(PARK23)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896607</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) Click for more information."><span class="highlight" style="background-color:">C4225186</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>PARK23; PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET</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="VPS13C - ID: 54832 - NCBI Gene" href="/gene/54832" class="medgenPMinfo">VPS13C</a> (15q22.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014796" target="_blank">MONDO:0014796</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616840" target="_blank">616840</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
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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">Parkinson disease-23 (PARK23) is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by Lesage et al., 2016). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_102">
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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) 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_2773"><div><strong>Cachexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2773</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) Click for more information.">C0006625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2773">Feature record</a> | <a href="/medgen?term=%22Cachexia%22%5BClinical%20Features%5D%20OR%202773%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</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) Click for more information.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty in swallowing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3587"><div><strong>Confusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3587</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) Click for more information.">C0009676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of clarity and coherence of thought, perception, understanding, or action.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3587">Feature record</a> | <a href="/medgen?term=%22Confusion%22%5BClinical%20Features%5D%20OR%203587%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</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) Click for more information.">C0011581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4229">Feature record</a> | <a href="/medgen?term=%22Depression%22%5BClinical%20Features%5D%20OR%204229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8511"><div><strong>Abnormal autonomic nervous system physiology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8511</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) Click for more information.">C0013363</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A functional abnormality of the autonomic nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8511">Feature record</a> | <a href="/medgen?term=%22Abnormal%20autonomic%20nervous%20system%20physiology%22%5BClinical%20Features%5D%20OR%208511%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6709"><div><strong>Hallucinations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6709</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) Click for more information.">C0018524</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6709">Feature record</a> | <a href="/medgen?term=%22Hallucinations%22%5BClinical%20Features%5D%20OR%206709%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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) Click for more information.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43126"><div><strong>Lewy bodies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43126</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) Click for more information.">C0085200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell Component</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intracytoplasmic, eosinophilic, round to elongated inclusions found in vacuoles of injured or fragmented neurons. The presence of Lewy bodies is the histological marker of the degenerative changes in LEWY BODY DISEASE and PARKINSON DISEASE but they may be seen in other neurological conditions. They are typically found in the substantia nigra and locus coeruleus but they are also seen in the basal forebrain, hypothalamic nuclei, and neocortex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Lewy%20bodies%22%5BClinical%20Features%5D%20OR%2043126%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39273"><div><strong>Neurofibrillary tangles</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39273</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) Click for more information.">C0085400</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39273">Feature record</a> | <a href="/medgen?term=%22Neurofibrillary%20tangles%22%5BClinical%20Features%5D%20OR%2039273%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43218"><div><strong>Akinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43218</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) Click for more information.">C0085623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43218">Feature record</a> | <a href="/medgen?term=%22Akinesia%22%5BClinical%20Features%5D%20OR%2043218%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) 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_39084"><div><strong>Falls</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39084</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) Click for more information.">C0085639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sudden movement downward, usually resulting in injury.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39084">Feature record</a> | <a href="/medgen?term=%22Falls%22%5BClinical%20Features%5D%20OR%2039084%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) 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_68582"><div><strong>Abnormal pyramidal sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68582</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) Click for more information.">C0234132</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Functional neurological abnormalities related to dysfunction of the pyramidal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68582">Feature record</a> | <a href="/medgen?term=%22Abnormal%20pyramidal%20sign%22%5BClinical%20Features%5D%20OR%2068582%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66697"><div><strong>Resting tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66697</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) Click for more information.">C0234379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66697">Feature record</a> | <a href="/medgen?term=%22Resting%20tremor%22%5BClinical%20Features%5D%20OR%2066697%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65885"><div><strong>Slurred speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65885</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) Click for more information.">C0234518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal coordination of muscles involved in speech.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65885">Feature record</a> | <a href="/medgen?term=%22Slurred%20speech%22%5BClinical%20Features%5D%20OR%2065885%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66713"><div><strong>Mental deterioration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66713</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) Click for more information.">C0234985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of previously present mental abilities, generally in adults.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66713">Feature record</a> | <a href="/medgen?term=%22Mental%20deterioration%22%5BClinical%20Features%5D%20OR%2066713%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99229"><div><strong>Dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99229</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) Click for more information.">C0497327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99229">Feature record</a> | <a href="/medgen?term=%22Dementia%22%5BClinical%20Features%5D%20OR%2099229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_152944"><div><strong>Limb dystonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152944</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) Click for more information.">C0751093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/152944">Feature record</a> | <a href="/medgen?term=%22Limb%20dystonia%22%5BClinical%20Features%5D%20OR%20152944%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_678586"><div><strong>Freezing of gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>678586</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) Click for more information.">C0860515</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/678586">Feature record</a> | <a href="/medgen?term=%22Freezing%20of%20gait%22%5BClinical%20Features%5D%20OR%20678586%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332305"><div><strong>Loss of ambulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332305</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) Click for more information.">C1836843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to walk in a person who previous had the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332305">Feature record</a> | <a href="/medgen?term=%22Loss%20of%20ambulation%22%5BClinical%20Features%5D%20OR%20332305%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334529"><div><strong>Postural instability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334529</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) Click for more information.">C1843921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334529">Feature record</a> | <a href="/medgen?term=%22Postural%20instability%22%5BClinical%20Features%5D%20OR%20334529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375989"><div><strong>Parkinsonism with favorable response to dopaminergic medication</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375989</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) Click for more information.">C1846868</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375989">Feature record</a> | <a href="/medgen?term=%22Parkinsonism%20with%20favorable%20response%20to%20dopaminergic%20medication%22%5BClinical%20Features%5D%20OR%20375989%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) 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_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) 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) 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(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li></ul></li><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_8511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal autonomic nervous system physiology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68582" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal pyramidal sign</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Akinesia</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_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_3587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Confusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Falls</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_678586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Freezing of gait</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6709" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hallucinations</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_43126" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lewy bodies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_152944" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb dystonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332305" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loss of ambulation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mental deterioration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibrillary tangles</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_375989" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parkinsonism with favorable response to dopaminergic medication</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postural instability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Resting tremor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65885" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Slurred speech</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</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><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2773" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cachexia</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/36774704">Genetic screening of Filipinos suspected with familial Parkinson's disease: A pilot study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caritativo ECA,
|
||
Yu JRT,
|
||
Bautista JMP,
|
||
Nishioka K,
|
||
Jamora RDG,
|
||
Yalung PM,
|
||
Ng AR,
|
||
Hattori N</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2023 Mar;108:105319.
|
||
Epub 2023 Feb 7
|
||
doi: 10.1016/j.parkreldis.2023.105319.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36774704" target="_blank">36774704</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(autosomal%20recessive%20early-onset%20parkinson%20disease%2023)%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 (1)</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/36774704">Genetic screening of Filipinos suspected with familial Parkinson's disease: A pilot study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caritativo ECA,
|
||
Yu JRT,
|
||
Bautista JMP,
|
||
Nishioka K,
|
||
Jamora RDG,
|
||
Yalung PM,
|
||
Ng AR,
|
||
Hattori N</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2023 Mar;108:105319.
|
||
Epub 2023 Feb 7
|
||
doi: 10.1016/j.parkreldis.2023.105319.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36774704" target="_blank">36774704</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33448283">Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lubbe SJ,
|
||
Bustos BI,
|
||
Hu J,
|
||
Krainc D,
|
||
Joseph T,
|
||
Hehir J,
|
||
Tan M,
|
||
Zhang W,
|
||
Escott-Price V,
|
||
Williams NM,
|
||
Blauwendraat C,
|
||
Singleton AB,
|
||
Morris HR;
|
||
for International Parkinson’s Disease Genomics Consortium (IPDGC)</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2021 Mar 25;30(1):78-86.
|
||
doi: 10.1093/hmg/ddaa273.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33448283" target="_blank">33448283</a><a href="/pmc/articles/PMC8033143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32613234">The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Y,
|
||
Qin L,
|
||
Pan H,
|
||
Liu Z,
|
||
Jiang L,
|
||
He Y,
|
||
Zeng Q,
|
||
Zhou X,
|
||
Zhou X,
|
||
Zhou Y,
|
||
Fang Z,
|
||
Wang Z,
|
||
Xiang Y,
|
||
Yang H,
|
||
Wang Y,
|
||
Zhang K,
|
||
Zhang R,
|
||
He R,
|
||
Zhou X,
|
||
Zhou Z,
|
||
Yang N,
|
||
Liang D,
|
||
Chen J,
|
||
Zhang X,
|
||
Zhou Y,
|
||
Liu H,
|
||
Deng P,
|
||
Xu K,
|
||
Xu K,
|
||
Zhou C,
|
||
Zhong J,
|
||
Xu Q,
|
||
Sun Q,
|
||
Li B,
|
||
Zhao G,
|
||
Wang T,
|
||
Chen L,
|
||
Shang H,
|
||
Liu W,
|
||
Chan P,
|
||
Xue Z,
|
||
Wang Q,
|
||
Guo L,
|
||
Wang X,
|
||
Xu C,
|
||
Zhang Z,
|
||
Chen T,
|
||
Lei L,
|
||
Zhang H,
|
||
Wang C,
|
||
Tan J,
|
||
Yan X,
|
||
Shen L,
|
||
Jiang H,
|
||
Zhang Z,
|
||
Hu Z,
|
||
Xia K,
|
||
Yue Z,
|
||
Li J,
|
||
Guo J,
|
||
Tang B</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Jul 1;143(7):2220-2234.
|
||
doi: 10.1093/brain/awaa167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32613234" target="_blank">32613234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21368765">PLA2G6 variant in Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tomiyama H,
|
||
Yoshino H,
|
||
Ogaki K,
|
||
Li L,
|
||
Yamashita C,
|
||
Li Y,
|
||
Funayama M,
|
||
Sasaki R,
|
||
Kokubo Y,
|
||
Kuzuhara S,
|
||
Hattori N</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2011 May;56(5):401-3.
|
||
Epub 2011 Mar 3
|
||
doi: 10.1038/jhg.2011.22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21368765" target="_blank">21368765</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18987353">A multidisciplinary study of patients with early-onset PD with and without parkin mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lohmann E,
|
||
Thobois S,
|
||
Lesage S,
|
||
Broussolle E,
|
||
du Montcel ST,
|
||
Ribeiro MJ,
|
||
Remy P,
|
||
Pelissolo A,
|
||
Dubois B,
|
||
Mallet L,
|
||
Pollak P,
|
||
Agid Y,
|
||
Brice A;
|
||
French Parkinson's Disease Genetics Study Group</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2009 Jan 13;72(2):110-6.
|
||
Epub 2008 Nov 5
|
||
doi: 10.1212/01.wnl.0000327098.86861.d4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18987353" target="_blank">18987353</a><a href="/pmc/articles/PMC2677494" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20early-onset%20Parkinson%20disease%2023%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36096017">Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manti F,
|
||
Mastrangelo M,
|
||
Battini R,
|
||
Carducci C,
|
||
Spagnoli C,
|
||
Fusco C,
|
||
Tolve M,
|
||
Carducci C,
|
||
Leuzzi V</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2022 Oct;103:105-111.
|
||
Epub 2022 Sep 7
|
||
doi: 10.1016/j.parkreldis.2022.08.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36096017" target="_blank">36096017</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32613234">The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Y,
|
||
Qin L,
|
||
Pan H,
|
||
Liu Z,
|
||
Jiang L,
|
||
He Y,
|
||
Zeng Q,
|
||
Zhou X,
|
||
Zhou X,
|
||
Zhou Y,
|
||
Fang Z,
|
||
Wang Z,
|
||
Xiang Y,
|
||
Yang H,
|
||
Wang Y,
|
||
Zhang K,
|
||
Zhang R,
|
||
He R,
|
||
Zhou X,
|
||
Zhou Z,
|
||
Yang N,
|
||
Liang D,
|
||
Chen J,
|
||
Zhang X,
|
||
Zhou Y,
|
||
Liu H,
|
||
Deng P,
|
||
Xu K,
|
||
Xu K,
|
||
Zhou C,
|
||
Zhong J,
|
||
Xu Q,
|
||
Sun Q,
|
||
Li B,
|
||
Zhao G,
|
||
Wang T,
|
||
Chen L,
|
||
Shang H,
|
||
Liu W,
|
||
Chan P,
|
||
Xue Z,
|
||
Wang Q,
|
||
Guo L,
|
||
Wang X,
|
||
Xu C,
|
||
Zhang Z,
|
||
Chen T,
|
||
Lei L,
|
||
Zhang H,
|
||
Wang C,
|
||
Tan J,
|
||
Yan X,
|
||
Shen L,
|
||
Jiang H,
|
||
Zhang Z,
|
||
Hu Z,
|
||
Xia K,
|
||
Yue Z,
|
||
Li J,
|
||
Guo J,
|
||
Tang B</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Jul 1;143(7):2220-2234.
|
||
doi: 10.1093/brain/awaa167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32613234" target="_blank">32613234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25566998">Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reetz K,
|
||
Dogan I,
|
||
Costa AS,
|
||
Dafotakis M,
|
||
Fedosov K,
|
||
Giunti P,
|
||
Parkinson MH,
|
||
Sweeney MG,
|
||
Mariotti C,
|
||
Panzeri M,
|
||
Nanetti L,
|
||
Arpa J,
|
||
Sanz-Gallego I,
|
||
Durr A,
|
||
Charles P,
|
||
Boesch S,
|
||
Nachbauer W,
|
||
Klopstock T,
|
||
Karin I,
|
||
Depondt C,
|
||
vom Hagen JM,
|
||
Schöls L,
|
||
Giordano IA,
|
||
Klockgether T,
|
||
Bürk K,
|
||
Pandolfo M,
|
||
Schulz JB</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2015 Feb;14(2):174-82.
|
||
Epub 2015 Jan 5
|
||
doi: 10.1016/S1474-4422(14)70321-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25566998" target="_blank">25566998</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24753243">Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fossbakk A,
|
||
Kleppe R,
|
||
Knappskog PM,
|
||
Martinez A,
|
||
Haavik J</span><br />
|
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<span class="medgenPMjournal">Hum Mutat</span>
|
||
2014 Jul;35(7):880-90.
|
||
Epub 2014 Jun 3
|
||
doi: 10.1002/humu.22565.
|
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<span class="bold">PMID: </span><a href="/pubmed/24753243" target="_blank">24753243</a><a href="/pmc/articles/PMC4312968" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18987353">A multidisciplinary study of patients with early-onset PD with and without parkin mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lohmann E,
|
||
Thobois S,
|
||
Lesage S,
|
||
Broussolle E,
|
||
du Montcel ST,
|
||
Ribeiro MJ,
|
||
Remy P,
|
||
Pelissolo A,
|
||
Dubois B,
|
||
Mallet L,
|
||
Pollak P,
|
||
Agid Y,
|
||
Brice A;
|
||
French Parkinson's Disease Genetics Study Group</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
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2009 Jan 13;72(2):110-6.
|
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Epub 2008 Nov 5
|
||
doi: 10.1212/01.wnl.0000327098.86861.d4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18987353" target="_blank">18987353</a><a href="/pmc/articles/PMC2677494" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20early-onset%20Parkinson%20disease%2023%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 (6)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26099628">Nigral overexpression of alpha-synuclein in the absence of parkin enhances alpha-synuclein phosphorylation but does not modulate dopaminergic neurodegeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Rompuy AS,
|
||
Oliveras-Salvá M,
|
||
Van der Perren A,
|
||
Corti O,
|
||
Van den Haute C,
|
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Baekelandt V</span><br />
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<span class="medgenPMjournal">Mol Neurodegener</span>
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2015 Jun 23;10:23.
|
||
doi: 10.1186/s13024-015-0017-8.
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<span class="bold">PMID: </span><a href="/pubmed/26099628" target="_blank">26099628</a><a href="/pmc/articles/PMC4477319" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25566998">Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reetz K,
|
||
Dogan I,
|
||
Costa AS,
|
||
Dafotakis M,
|
||
Fedosov K,
|
||
Giunti P,
|
||
Parkinson MH,
|
||
Sweeney MG,
|
||
Mariotti C,
|
||
Panzeri M,
|
||
Nanetti L,
|
||
Arpa J,
|
||
Sanz-Gallego I,
|
||
Durr A,
|
||
Charles P,
|
||
Boesch S,
|
||
Nachbauer W,
|
||
Klopstock T,
|
||
Karin I,
|
||
Depondt C,
|
||
vom Hagen JM,
|
||
Schöls L,
|
||
Giordano IA,
|
||
Klockgether T,
|
||
Bürk K,
|
||
Pandolfo M,
|
||
Schulz JB</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2015 Feb;14(2):174-82.
|
||
Epub 2015 Jan 5
|
||
doi: 10.1016/S1474-4422(14)70321-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25566998" target="_blank">25566998</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18987353">A multidisciplinary study of patients with early-onset PD with and without parkin mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lohmann E,
|
||
Thobois S,
|
||
Lesage S,
|
||
Broussolle E,
|
||
du Montcel ST,
|
||
Ribeiro MJ,
|
||
Remy P,
|
||
Pelissolo A,
|
||
Dubois B,
|
||
Mallet L,
|
||
Pollak P,
|
||
Agid Y,
|
||
Brice A;
|
||
French Parkinson's Disease Genetics Study Group</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2009 Jan 13;72(2):110-6.
|
||
Epub 2008 Nov 5
|
||
doi: 10.1212/01.wnl.0000327098.86861.d4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18987353" target="_blank">18987353</a><a href="/pmc/articles/PMC2677494" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20early-onset%20Parkinson%20disease%2023%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36096017">Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manti F,
|
||
Mastrangelo M,
|
||
Battini R,
|
||
Carducci C,
|
||
Spagnoli C,
|
||
Fusco C,
|
||
Tolve M,
|
||
Carducci C,
|
||
Leuzzi V</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2022 Oct;103:105-111.
|
||
Epub 2022 Sep 7
|
||
doi: 10.1016/j.parkreldis.2022.08.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36096017" target="_blank">36096017</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25566998">Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reetz K,
|
||
Dogan I,
|
||
Costa AS,
|
||
Dafotakis M,
|
||
Fedosov K,
|
||
Giunti P,
|
||
Parkinson MH,
|
||
Sweeney MG,
|
||
Mariotti C,
|
||
Panzeri M,
|
||
Nanetti L,
|
||
Arpa J,
|
||
Sanz-Gallego I,
|
||
Durr A,
|
||
Charles P,
|
||
Boesch S,
|
||
Nachbauer W,
|
||
Klopstock T,
|
||
Karin I,
|
||
Depondt C,
|
||
vom Hagen JM,
|
||
Schöls L,
|
||
Giordano IA,
|
||
Klockgether T,
|
||
Bürk K,
|
||
Pandolfo M,
|
||
Schulz JB</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2015 Feb;14(2):174-82.
|
||
Epub 2015 Jan 5
|
||
doi: 10.1016/S1474-4422(14)70321-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25566998" target="_blank">25566998</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24399444">Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park JS,
|
||
Koentjoro B,
|
||
Veivers D,
|
||
Mackay-Sim A,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2014 Jun 1;23(11):2802-15.
|
||
Epub 2014 Jan 7
|
||
doi: 10.1093/hmg/ddt623.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24399444" target="_blank">24399444</a><a href="/pmc/articles/PMC4014187" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18987353">A multidisciplinary study of patients with early-onset PD with and without parkin mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lohmann E,
|
||
Thobois S,
|
||
Lesage S,
|
||
Broussolle E,
|
||
du Montcel ST,
|
||
Ribeiro MJ,
|
||
Remy P,
|
||
Pelissolo A,
|
||
Dubois B,
|
||
Mallet L,
|
||
Pollak P,
|
||
Agid Y,
|
||
Brice A;
|
||
French Parkinson's Disease Genetics Study Group</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2009 Jan 13;72(2):110-6.
|
||
Epub 2008 Nov 5
|
||
doi: 10.1212/01.wnl.0000327098.86861.d4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18987353" target="_blank">18987353</a><a href="/pmc/articles/PMC2677494" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10984666">Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamamura Y,
|
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Hattori N,
|
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Matsumine H,
|
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Kuzuhara S,
|
||
Mizuno Y</span><br />
|
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<span class="medgenPMjournal">Brain Dev</span>
|
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2000 Sep;22 Suppl 1:S87-91.
|
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doi: 10.1016/s0387-7604(00)00130-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10984666" target="_blank">10984666</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20early-onset%20Parkinson%20disease%2023%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36096017">Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manti F,
|
||
Mastrangelo M,
|
||
Battini R,
|
||
Carducci C,
|
||
Spagnoli C,
|
||
Fusco C,
|
||
Tolve M,
|
||
Carducci C,
|
||
Leuzzi V</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2022 Oct;103:105-111.
|
||
Epub 2022 Sep 7
|
||
doi: 10.1016/j.parkreldis.2022.08.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36096017" target="_blank">36096017</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26099628">Nigral overexpression of alpha-synuclein in the absence of parkin enhances alpha-synuclein phosphorylation but does not modulate dopaminergic neurodegeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Rompuy AS,
|
||
Oliveras-Salvá M,
|
||
Van der Perren A,
|
||
Corti O,
|
||
Van den Haute C,
|
||
Baekelandt V</span><br />
|
||
<span class="medgenPMjournal">Mol Neurodegener</span>
|
||
2015 Jun 23;10:23.
|
||
doi: 10.1186/s13024-015-0017-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26099628" target="_blank">26099628</a><a href="/pmc/articles/PMC4477319" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25566998">Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reetz K,
|
||
Dogan I,
|
||
Costa AS,
|
||
Dafotakis M,
|
||
Fedosov K,
|
||
Giunti P,
|
||
Parkinson MH,
|
||
Sweeney MG,
|
||
Mariotti C,
|
||
Panzeri M,
|
||
Nanetti L,
|
||
Arpa J,
|
||
Sanz-Gallego I,
|
||
Durr A,
|
||
Charles P,
|
||
Boesch S,
|
||
Nachbauer W,
|
||
Klopstock T,
|
||
Karin I,
|
||
Depondt C,
|
||
vom Hagen JM,
|
||
Schöls L,
|
||
Giordano IA,
|
||
Klockgether T,
|
||
Bürk K,
|
||
Pandolfo M,
|
||
Schulz JB</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2015 Feb;14(2):174-82.
|
||
Epub 2015 Jan 5
|
||
doi: 10.1016/S1474-4422(14)70321-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25566998" target="_blank">25566998</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24399444">Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park JS,
|
||
Koentjoro B,
|
||
Veivers D,
|
||
Mackay-Sim A,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2014 Jun 1;23(11):2802-15.
|
||
Epub 2014 Jan 7
|
||
doi: 10.1093/hmg/ddt623.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24399444" target="_blank">24399444</a><a href="/pmc/articles/PMC4014187" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16203113">Drosophila DJ-1 mutants show oxidative stress-sensitive locomotive dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park J,
|
||
Kim SY,
|
||
Cha GH,
|
||
Lee SB,
|
||
Kim S,
|
||
Chung J</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2005 Nov 21;361:133-9.
|
||
Epub 2005 Oct 3
|
||
doi: 10.1016/j.gene.2005.06.040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16203113" target="_blank">16203113</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20early-onset%20Parkinson%20disease%2023%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 (8)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<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=C4225186%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225186%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225186%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225186%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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&start=1&limit=10&sort=score%20desc&field=number&search=616840" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Autosomal%20recessive%20early-onset%20Parkinson%20disease%2023" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_121">
|
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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>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc2db1a68b6b5afc88805c">Autosomal recessive early-onset Parkinson disease 23</a>
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