Parkinson’s disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation
Identifieur interne : 003E60 ( Ncbi/Curation ); précédent : 003E59; suivant : 003E61Parkinson’s disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation
Auteurs : Madeleine E. Sharp [États-Unis] ; Karen S. Marder [États-Unis] ; Lucien Côté [États-Unis] ; Lorraine N. Clark [États-Unis] ; William C. Nichols ; Jean-Paul Vonsattel [États-Unis] ; Roy N. Alcalay [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- chemical , therapeutic use : Levodopa.
- drug therapy : Parkinson Disease.
- genetics : Lewy Bodies, Parkinson Disease.
- pathology : Lewy Bodies, Parkinson Disease, Substantia Nigra.
- Adult, Gene Dosage, Humans, Male, Mutation.
Abstract
Clinical chart, genetic analysis and pathological findings of a patient with familial PD are reviewed.
A 44-year-old man developed slowly progressive tremor-predominant PD with excellent response to levodopa. Genetic analysis revealed a heterozygous
The deletion is unlikely an incidental finding considering family history, age-at-onset and the presence of clinical and pathological features not typical of sporadic PD.
Url:
DOI: 10.1002/mds.25792
PubMed: 24375549
PubMed Central: 4281030
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William C. Nichols<affiliation><nlm:aff id="A6">Division of Human Genetics, Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine</nlm:aff>
<wicri:noCountry code="subfield">Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine</wicri:noCountry>
</affiliation>
Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Parkinson’s disease with Lewy bodies associated with a heterozygous <italic>PARKIN</italic>
dosage mutation</title>
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<author><name sortKey="Cote, Lucien" sort="Cote, Lucien" uniqKey="Cote L" first="Lucien" last="Côté">Lucien Côté</name>
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<author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N" last="Clark">Lorraine N. Clark</name>
<affiliation wicri:level="4"><nlm:aff id="A4">Department of Molecular Genetics, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Gene Dosage</term>
<term>Humans</term>
<term>Levodopa (therapeutic use)</term>
<term>Lewy Bodies (genetics)</term>
<term>Lewy Bodies (pathology)</term>
<term>Male</term>
<term>Mutation</term>
<term>Parkinson Disease (drug therapy)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (pathology)</term>
<term>Substantia Nigra (pathology)</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Levodopa</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lewy Bodies</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lewy Bodies</term>
<term>Parkinson Disease</term>
<term>Substantia Nigra</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Gene Dosage</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
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<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title>
<p id="P1"><italic>PARKIN</italic>
-related disease remains incompletely understood. First, the pathogenicity of heterozygous <italic>PARKIN</italic>
mutations is unclear though some evidence supports causality. Second, unlike sporadic Parkinson’s disease (PD), Lewy bodies are present only in a minority of cases. Only one other heterozygote <italic>PARKIN</italic>
carrier with autopsy findings has been described. Our case adds to the broadening pathological and clinical phenotype of <italic>PARKIN</italic>
-related disease.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P2">Clinical chart, genetic analysis and pathological findings of a patient with familial PD are reviewed.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">A 44-year-old man developed slowly progressive tremor-predominant PD with excellent response to levodopa. Genetic analysis revealed a heterozygous <italic>PARKIN</italic>
exon 3-4 deletion, also present in two family members with early-onset PD. Post-mortem examination showed severe neuronal loss in the substantia nigra and nucleus coeruleus with presence of diffuse Lewy bodies.</p>
</sec>
<sec id="S4"><title>Conclusions</title>
<p id="P4">The deletion is unlikely an incidental finding considering family history, age-at-onset and the presence of clinical and pathological features not typical of sporadic PD.</p>
</sec>
</div>
</front>
</TEI>
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