Genetic movement disorders in patients of Jewish ancestry.
Identifieur interne : 000021 ( PubMed/Curation ); précédent : 000020; suivant : 000022Genetic movement disorders in patients of Jewish ancestry.
Auteurs : Rivka Inzelberg [Israël] ; Sharon Hassin [Israël] ; Joseph Jankovic [États-Unis]Source :
- JAMA neurology ; 2014.
English descriptors
- KwdEn :
- MESH :
- ethnology : Jews, Movement Disorders, Parkinson Disease.
- genetics : Jews, Movement Disorders, Parkinson Disease.
- Humans.
Abstract
Genetic diseases often cluster in different ethnic groups and may present with recognizable unique clinical manifestations.
DOI: 10.1001/jamaneurol.2014.1364
PubMed: 25347348
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Hassin</name><affiliation wicri:level="1"><nlm:affiliation>Parkinson's Disease and Movement Disorders Clinic, Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel2Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Parkinson's Disease and Movement Disorders Clinic, Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel2Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv</wicri:regionArea></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="2"><nlm:affiliation>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="doi">10.1001/jamaneurol.2014.1364</idno><idno type="RBID">pubmed:25347348</idno><idno type="pmid">25347348</idno><idno type="wicri:Area/PubMed/Corpus">000021</idno><idno type="wicri:Area/PubMed/Curation">000021</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Genetic movement disorders in patients of Jewish ancestry.</title><author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name><affiliation wicri:level="1"><nlm:affiliation>Parkinson's Disease and Movement Disorders Clinic, Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel2Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Parkinson's Disease and Movement Disorders Clinic, Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel2Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv</wicri:regionArea></affiliation></author><author><name sortKey="Hassin Baer, Sharon" sort="Hassin Baer, Sharon" uniqKey="Hassin Baer S" first="Sharon" last="Hassin">Sharon Hassin</name><affiliation wicri:level="1"><nlm:affiliation>Parkinson's Disease and Movement Disorders Clinic, Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel2Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Parkinson's Disease and Movement Disorders Clinic, Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel2Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv</wicri:regionArea></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="2"><nlm:affiliation>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author></analytic><series><title level="j">JAMA neurology</title><idno type="e-ISSN">2168-6157</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Humans</term><term>Jews (ethnology)</term><term>Jews (genetics)</term><term>Movement Disorders (ethnology)</term><term>Movement Disorders (genetics)</term><term>Parkinson Disease (ethnology)</term><term>Parkinson Disease (genetics)</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Jews</term><term>Movement Disorders</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Jews</term><term>Movement Disorders</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genetic diseases often cluster in different ethnic groups and may present with recognizable unique clinical manifestations.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">25347348</PMID><DateCreated><Year>2014</Year><Month>12</Month><Day>09</Day></DateCreated><DateCompleted><Year>2015</Year><Month>03</Month><Day>06</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">2168-6157</ISSN><JournalIssue CitedMedium="Internet"><Volume>71</Volume><Issue>12</Issue><PubDate><Year>2014</Year><Month>Dec</Month></PubDate></JournalIssue><Title>JAMA neurology</Title><ISOAbbreviation>JAMA Neurol</ISOAbbreviation></Journal><ArticleTitle>Genetic movement disorders in patients of Jewish ancestry.</ArticleTitle><Pagination><MedlinePgn>1567-72</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1001/jamaneurol.2014.1364</ELocationID><Abstract><AbstractText Label="IMPORTANCE" NlmCategory="OBJECTIVE">Genetic diseases often cluster in different ethnic groups and may present with recognizable unique clinical manifestations.</AbstractText><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To summarize current knowledge about movement disorders overrepresented among patients of Jewish ancestry.</AbstractText><AbstractText Label="EVIDENCE REVIEW" NlmCategory="METHODS">We searched PubMed and the OMIM and Israeli National Genetic Databases for articles published from 1969 through March 31, 2014, using the search terms Parkinson's disease,movement disorders, ataxia, dystonia, chorea, and Creutzfeldt-Jakob with and Jewish. The final reference list was generated by giving priority to articles directly related to the topic, articles with the latest information, and comprehensive but relevant reviews.</AbstractText><AbstractText Label="FINDINGS" NlmCategory="RESULTS">About one-third of patients with sporadic Parkinson disease (PD) and more than 40% of patients with familial PD of Ashkenazi Jewish descent likely carry the G2019S mutation in the LRRK2 gene, a mutation in the glucocerebrosidase (GBA) gene, or both. This finding contrasts with only a 10% frequency of these mutations in patients with PD who are of non-Jewish ancestry. A dystonia due to a TOR1A gene mutation is responsible for most early-onset autosomal dominant dystonia, and 90% of Ashkenazi Jews who develop early-onset disease have TOR1A-related dystonia. Familial Creutzfeldt-Jakob disease and cerebrotendinous xanthomatosis tend to cluster among Jews of North African descent, and Machado-Joseph disease is particularly frequent in Yemenite Jews.</AbstractText><AbstractText Label="CONCLUSIONS AND RELEVANCE" NlmCategory="CONCLUSIONS">Genetic forms of PD are much more common in patients of Ashkenazi Jewish ancestry with sporadic and familial PD than in the non-Jewish population. The recognition of the particular movement disorder phenotype, coupled with information about the ethnic origin of the patients, may point to specific genetic testing and lead to early and correct diagnosis.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Inzelberg</LastName><ForeName>Rivka</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Parkinson's Disease and Movement Disorders Clinic, Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel2Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hassin-Baer</LastName><ForeName>Sharon</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Parkinson's Disease and Movement Disorders Clinic, Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel2Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jankovic</LastName><ForeName>Joseph</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>JAMA Neurol</MedlineTA><NlmUniqueID>101589536</NlmUniqueID><ISSNLinking>2168-6149</ISSNLinking></MedlineJournalInfo><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007585">Jews</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000208">ethnology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009069">Movement Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000208">ethnology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000208">ethnology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>10</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>10</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>3</Month><Day>7</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pii">1919071</ArticleId><ArticleId IdType="doi">10.1001/jamaneurol.2014.1364</ArticleId><ArticleId IdType="pubmed">25347348</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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