Parkinson’s disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation
Identifieur interne : 003E60 ( Ncbi/Merge ); 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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PMC:4281030Le 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>
<author><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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<author><name sortKey="Cote, Lucien" sort="Cote, Lucien" uniqKey="Cote L" first="Lucien" last="Côté">Lucien Côté</name>
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<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
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</affiliation>
</author>
<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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<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
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<placeName><settlement type="city">New York</settlement>
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</placeName>
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</affiliation>
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<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C" last="Nichols">William C. Nichols</name>
<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>
</author>
<author><name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name>
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<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
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</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A5">Department of Pathology, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
</author>
<author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Department of Neurology, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
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</placeName>
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</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A3">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University</nlm:aff>
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<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
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</affiliation>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
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</sourceDesc>
</fileDesc>
<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>
</keywords>
</textClass>
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</teiHeader>
<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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<author><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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<wicri:noCountry code="subfield">Cincinnati Children’s Hospital Medical Center and the Department of Pediatrics; University of Cincinnati College of Medicine</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name>
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<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A5">Department of Pathology, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
<orgName type="university">Université Columbia</orgName>
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<author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name>
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<placeName><settlement type="city">New York</settlement>
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<placeName><settlement type="city">New York</settlement>
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<orgName type="university">Université Columbia</orgName>
</affiliation>
</author>
<author><name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Department of Neurology, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A2">Gertrude H. Sergievsky Center, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A3">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
</author>
<author><name sortKey="Cote, Lucien" sort="Cote, Lucien" uniqKey="Cote L" first="Lucien" last="Côté">Lucien Côté</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Department of Neurology, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A3">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
</author>
<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>
<region type="state">État de New York</region>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A5">Department of Pathology, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
</author>
<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C" last="Nichols">William C. Nichols</name>
<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>
</author>
<author><name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name>
<affiliation wicri:level="4"><nlm:aff id="A3">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A5">Department of Pathology, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
</author>
<author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Department of Neurology, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A3">Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">New York</settlement>
<region type="state">État de New York</region>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<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>
</pmc>
<pubmed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Parkinson's disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation.</title>
<author><name sortKey="Sharp, Madeleine E" sort="Sharp, Madeleine E" uniqKey="Sharp M" first="Madeleine E" last="Sharp">Madeleine E. Sharp</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, Columbia University, New York, New York, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Columbia University, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
<settlement type="city">New York</settlement>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
</author>
<author><name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</name>
</author>
<author><name sortKey="Cote, Lucien" sort="Cote, Lucien" uniqKey="Cote L" first="Lucien" last="Côté">Lucien Côté</name>
</author>
<author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N" last="Clark">Lorraine N. Clark</name>
</author>
<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C" last="Nichols">William C. Nichols</name>
</author>
<author><name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name>
</author>
<author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2014">2014</date>
<idno type="RBID">pubmed:24375549</idno>
<idno type="pmid">24375549</idno>
<idno type="doi">10.1002/mds.25792</idno>
<idno type="wicri:Area/PubMed/Corpus">000637</idno>
<idno type="wicri:Area/PubMed/Curation">000637</idno>
<idno type="wicri:Area/PubMed/Checkpoint">000492</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Parkinson's disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation.</title>
<author><name sortKey="Sharp, Madeleine E" sort="Sharp, Madeleine E" uniqKey="Sharp M" first="Madeleine E" last="Sharp">Madeleine E. Sharp</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, Columbia University, New York, New York, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Columbia University, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
<settlement type="city">New York</settlement>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
</author>
<author><name sortKey="Marder, Karen S" sort="Marder, Karen S" uniqKey="Marder K" first="Karen S" last="Marder">Karen S. Marder</name>
</author>
<author><name sortKey="Cote, Lucien" sort="Cote, Lucien" uniqKey="Cote L" first="Lucien" last="Côté">Lucien Côté</name>
</author>
<author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N" last="Clark">Lorraine N. Clark</name>
</author>
<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C" last="Nichols">William C. Nichols</name>
</author>
<author><name sortKey="Vonsattel, Jean Paul" sort="Vonsattel, Jean Paul" uniqKey="Vonsattel J" first="Jean-Paul" last="Vonsattel">Jean-Paul Vonsattel</name>
</author>
<author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2014" type="published">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<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>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">PARKIN-related disease remains incompletely understood. First, the pathogenicity of heterozygous PARKIN mutations is unclear, although 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.</div>
</front>
</TEI>
</pubmed>
</double>
</record>
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