MovDisordV3, Main, Exploration, bibRecord, 000855

Parkinson’s disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation

Identifieur interne : 000855 ( Main/Exploration ); précédent : 000854; suivant : 000856

Parkinson’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.

RBID : PMC:4281030

English descriptors

KwdEn :
- Adult, Gene Dosage, Humans, Levodopa (therapeutic use), Lewy Bodies (genetics), Lewy Bodies (pathology), Male, Mutation, Parkinson Disease (drug therapy), Parkinson Disease (genetics), Parkinson Disease (pathology), Substantia Nigra (pathology), Ubiquitin-Protein Ligases (genetics).
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

Background

PARKIN -related disease remains incompletely understood. First, the pathogenicity of heterozygous PARKIN 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 PARKIN carrier with autopsy findings has been described. Our case adds to the broadening pathological and clinical phenotype of PARKIN-related disease.

Methods

Clinical chart, genetic analysis and pathological findings of a patient with familial PD are reviewed.

Results

A 44-year-old man developed slowly progressive tremor-predominant PD with excellent response to levodopa. Genetic analysis revealed a heterozygous PARKIN 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.

Conclusions

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:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281030

DOI: 10.1002/mds.25792
PubMed: 24375549
PubMed Central: 4281030

Affiliations:

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>
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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>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin-Protein Ligases</term>
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<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>
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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>
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<orgName><li>Université Columbia</li>
</orgName>
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<tree><noCountry><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C" last="Nichols">William C. Nichols</name>
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<country name="États-Unis"><region name="État de New York"><name sortKey="Sharp, Madeleine E" sort="Sharp, Madeleine E" uniqKey="Sharp M" first="Madeleine E" last="Sharp">Madeleine E. Sharp</name>
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<name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name>
<name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name>
<name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N" last="Clark">Lorraine N. Clark</name>
<name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N" last="Clark">Lorraine N. Clark</name>
<name sortKey="Cote, Lucien" sort="Cote, Lucien" uniqKey="Cote L" first="Lucien" last="Côté">Lucien Côté</name>
<name sortKey="Cote, Lucien" sort="Cote, Lucien" uniqKey="Cote L" first="Lucien" last="Côté">Lucien Côté</name>
<name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</name>
<name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</name>
<name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</name>
<name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name>
<name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name>
</country>
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Movement Disorders (revue)

Parkinson’s disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation

Parkinson’s disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation

Source :

English descriptors

Abstract

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	Movement Disorders (revue)
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