SCA2 family presenting as typical Parkinson's disease: 34 year follow up.
Identifieur interne : 000027 ( PubMed/Checkpoint ); précédent : 000026; suivant : 000028SCA2 family presenting as typical Parkinson's disease: 34 year follow up.
Auteurs : Young Eun Kim [Corée du Sud] ; Beomseok Jeon [Corée du Sud] ; Matthew J. Farrer [Canada] ; Erika Scott [Canada] ; Ilaria Guella [Canada] ; Sung Sup Park [Corée du Sud] ; Jong Min Kim [Corée du Sud] ; Hye Young Park [Corée du Sud] ; Aryun Kim [Corée du Sud] ; Young Don Son [Corée du Sud] ; Zang Hee Cho [Corée du Sud]Source :
- Parkinsonism & related disorders [ 1873-5126 ] ; 2017.
Abstract
We describe a Korean family in SCA2 with long-duration levodopa-responsive parkinsonism without cerebellar ataxia.
DOI: 10.1016/j.parkreldis.2017.04.003
PubMed: 28462804
Affiliations:
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of Medicine, Seoul National University, Seoul, Republic of Korea. 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Farrer</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Scott, Erika" sort="Scott, Erika" uniqKey="Scott E" first="Erika" last="Scott">Erika Scott</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Park, Sung Sup" sort="Park, Sung Sup" uniqKey="Park S" first="Sung Sup" last="Park">Sung Sup Park</name><affiliation wicri:level="3"><nlm:affiliation>Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Hospital, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Kim, Jong Min" sort="Kim, Jong Min" uniqKey="Kim J" first="Jong Min" last="Kim">Jong Min Kim</name><affiliation wicri:level="1"><nlm:affiliation>Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University Bundang Hospital, Sungnam, Republic of Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University Bundang Hospital, Sungnam</wicri:regionArea><wicri:noRegion>Sungnam</wicri:noRegion></affiliation></author><author><name sortKey="Park, Hye Young" sort="Park, Hye Young" uniqKey="Park H" first="Hye Young" last="Park">Hye Young Park</name><affiliation wicri:level="4"><nlm:affiliation>Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University, Seoul, Republic of Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement><settlement type="city">Séoul</settlement></placeName><orgName type="university">Université nationale de Séoul</orgName></affiliation></author><author><name sortKey="Kim, Aryun" sort="Kim, Aryun" uniqKey="Kim A" first="Aryun" last="Kim">Aryun Kim</name><affiliation wicri:level="4"><nlm:affiliation>Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University, Seoul, Republic of Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement><settlement type="city">Séoul</settlement></placeName><orgName type="university">Université nationale de Séoul</orgName></affiliation></author><author><name sortKey="Son, Young Don" sort="Son, Young Don" uniqKey="Son Y" first="Young Don" last="Son">Young Don Son</name><affiliation wicri:level="1"><nlm:affiliation>Neuroscience Research Institute, Gachon University, Incheon, Republic of Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Neuroscience Research Institute, Gachon University, Incheon</wicri:regionArea><wicri:noRegion>Incheon</wicri:noRegion></affiliation></author><author><name sortKey="Cho, Zang Hee" sort="Cho, Zang Hee" uniqKey="Cho Z" first="Zang Hee" last="Cho">Zang Hee Cho</name><affiliation wicri:level="4"><nlm:affiliation>Graduate School of Convergence Science and Technology, Seoul National University, Suwon, Republic of Korea.</nlm:affiliation><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Graduate School of Convergence Science and Technology, Seoul National University, Suwon</wicri:regionArea><orgName type="university">Université nationale de Séoul</orgName><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author></analytic><series><title level="j">Parkinsonism & related disorders</title><idno type="eISSN">1873-5126</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe a Korean family in SCA2 with long-duration levodopa-responsive parkinsonism without cerebellar ataxia.</div></front></TEI><pubmed><MedlineCitation Status="Publisher" Owner="NLM"><PMID Version="1">28462804</PMID><DateCreated><Year>2017</Year><Month>05</Month><Day>02</Day></DateCreated><DateRevised><Year>2017</Year><Month>05</Month><Day>02</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1873-5126</ISSN><JournalIssue CitedMedium="Internet"><PubDate><Year>2017</Year><Month>Apr</Month><Day>12</Day></PubDate></JournalIssue><Title>Parkinsonism & related disorders</Title><ISOAbbreviation>Parkinsonism Relat. Disord.</ISOAbbreviation></Journal><ArticleTitle>SCA2 family presenting as typical Parkinson's disease: 34 year follow up.</ArticleTitle><ELocationID EIdType="pii" ValidYN="Y">S1353-8020(17)30133-5</ELocationID><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.parkreldis.2017.04.003</ELocationID><Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">We describe a Korean family in SCA2 with long-duration levodopa-responsive parkinsonism without cerebellar ataxia.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Clinical evaluation, genetic testing, and extensive imaging studies were done.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">All family members showed a typical Parkinson's disease phenotype without cerebellar ataxia for a long disease duration (up to 34 years). Genetic testing showed 40 CAG repeats and 4 CAA interruptions which is the longest repeat number among the families or patients manifesting with a parkinsonian phenotype without ataxia. Structural imaging (7T MRI and brain CT) showed a normal cerebellum and functional images showed nigrostriatal dopaminergic degeneration and normal D2 receptor binding activity, in agreement with the clinical phenotype.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">SCA2 should be considered as a cause of typical Parkinson's disease phenotype even in the absence of cerebellar ataxia.</AbstractText><CopyrightInformation>Copyright © 2017 Elsevier Ltd. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kim</LastName><ForeName>Young Eun</ForeName><Initials>YE</Initials><AffiliationInfo><Affiliation>Department of Neurology, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Republic of Korea.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jeon</LastName><ForeName>Beomseok</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University, Seoul, Republic of Korea. Electronic address: brain@snu.ac.kr.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>Matthew J</ForeName><Initials>MJ</Initials><AffiliationInfo><Affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Scott</LastName><ForeName>Erika</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Guella</LastName><ForeName>Ilaria</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Park</LastName><ForeName>Sung Sup</ForeName><Initials>SS</Initials><AffiliationInfo><Affiliation>Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kim</LastName><ForeName>Jong Min</ForeName><Initials>JM</Initials><AffiliationInfo><Affiliation>Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University Bundang Hospital, Sungnam, Republic of Korea.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Park</LastName><ForeName>Hye Young</ForeName><Initials>HY</Initials><AffiliationInfo><Affiliation>Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University, Seoul, Republic of Korea.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kim</LastName><ForeName>Aryun</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University, Seoul, Republic of Korea.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Son</LastName><ForeName>Young Don</ForeName><Initials>YD</Initials><AffiliationInfo><Affiliation>Neuroscience Research Institute, Gachon University, Incheon, Republic of Korea.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cho</LastName><ForeName>Zang Hee</ForeName><Initials>ZH</Initials><AffiliationInfo><Affiliation>Graduate School of Convergence Science and Technology, Seoul National University, Suwon, Republic of Korea.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>04</Month><Day>12</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Parkinsonism Relat Disord</MedlineTA><NlmUniqueID>9513583</NlmUniqueID><ISSNLinking>1353-8020</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Familial Parkinson's disease</Keyword><Keyword MajorTopicYN="N">Genetic</Keyword><Keyword MajorTopicYN="N">MRI</Keyword><Keyword MajorTopicYN="N">PET</Keyword><Keyword MajorTopicYN="N">SCA2</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2017</Year><Month>01</Month><Day>11</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2017</Year><Month>03</Month><Day>21</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2017</Year><Month>04</Month><Day>10</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>5</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>5</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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Farrer</name></noRegion><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name><name sortKey="Scott, Erika" sort="Scott, Erika" uniqKey="Scott E" first="Erika" last="Scott">Erika Scott</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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