MovDisordV3, PubMed, Corpus, bibRecord, 001272

Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up.

Identifieur interne : 001272 ( PubMed/Corpus ); précédent : 001271; suivant : 001273

Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up.

Auteurs : Sharon Hassin-Baer ; Nobutaka Hattori ; Oren S. Cohen ; Magdalena Massarwa ; Simon D. Israeli-Korn ; Rivka Inzelberg

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.

RBID : pubmed:21506149

English descriptors

KwdEn :
- Adenine, Adult, Age of Onset, Aged, Disability Evaluation, Disease Progression, Family Health, Female, Genotype, Humans, Longitudinal Studies, Male, Middle Aged, Parkinson Disease (genetics), Parkinson Disease (physiopathology), Phenotype, Sequence Deletion (genetics), Severity of Illness Index, Ubiquitin-Protein Ligases (genetics).
MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- chemical : Adenine.
- genetics : Parkinson Disease, Sequence Deletion.
- physiopathology : Parkinson Disease.
- Adult, Age of Onset, Aged, Disability Evaluation, Disease Progression, Family Health, Female, Genotype, Humans, Longitudinal Studies, Male, Middle Aged, Phenotype, Severity of Illness Index.

Abstract

We describe the four decades follow-up of 14 parkin patients belonging to two large eight-generation-long in-bred Muslim-Arab kindreds.

DOI: 10.1002/mds.23456
PubMed: 21506149

Links to Exploration step

pubmed:21506149

Le document en format XML

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<author><name sortKey="Hassin Baer, Sharon" sort="Hassin Baer, Sharon" uniqKey="Hassin Baer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name>
<affiliation><nlm:affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
</author>
<author><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S" last="Cohen">Oren S. Cohen</name>
</author>
<author><name sortKey="Massarwa, Magdalena" sort="Massarwa, Magdalena" uniqKey="Massarwa M" first="Magdalena" last="Massarwa">Magdalena Massarwa</name>
</author>
<author><name sortKey="Israeli Korn, Simon D" sort="Israeli Korn, Simon D" uniqKey="Israeli Korn S" first="Simon D" last="Israeli-Korn">Simon D. Israeli-Korn</name>
</author>
<author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up.</title>
<author><name sortKey="Hassin Baer, Sharon" sort="Hassin Baer, Sharon" uniqKey="Hassin Baer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name>
<affiliation><nlm:affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<author><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S" last="Cohen">Oren S. Cohen</name>
</author>
<author><name sortKey="Massarwa, Magdalena" sort="Massarwa, Magdalena" uniqKey="Massarwa M" first="Magdalena" last="Massarwa">Magdalena Massarwa</name>
</author>
<author><name sortKey="Israeli Korn, Simon D" sort="Israeli Korn, Simon D" uniqKey="Israeli Korn S" first="Simon D" last="Israeli-Korn">Simon D. Israeli-Korn</name>
</author>
<author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2011" type="published">2011</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adenine</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Disability Evaluation</term>
<term>Disease Progression</term>
<term>Family Health</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Longitudinal Studies</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (physiopathology)</term>
<term>Phenotype</term>
<term>Sequence Deletion (genetics)</term>
<term>Severity of Illness Index</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" xml:lang="en"><term>Adenine</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
<term>Sequence Deletion</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Disability Evaluation</term>
<term>Disease Progression</term>
<term>Family Health</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Longitudinal Studies</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Phenotype</term>
<term>Severity of Illness Index</term>
</keywords>
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</teiHeader>
<front><div type="abstract" xml:lang="en">We describe the four decades follow-up of 14 parkin patients belonging to two large eight-generation-long in-bred Muslim-Arab kindreds.</div>
</front>
</TEI>
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<DateCreated><Year>2011</Year>
<Month>04</Month>
<Day>20</Day>
</DateCreated>
<DateCompleted><Year>2011</Year>
<Month>08</Month>
<Day>15</Day>
</DateCompleted>
<DateRevised><Year>2013</Year>
<Month>11</Month>
<Day>21</Day>
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<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>26</Volume>
<Issue>4</Issue>
<PubDate><Year>2011</Year>
<Month>Mar</Month>
</PubDate>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up.</ArticleTitle>
<Pagination><MedlinePgn>719-22</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23456</ELocationID>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">We describe the four decades follow-up of 14 parkin patients belonging to two large eight-generation-long in-bred Muslim-Arab kindreds.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">All patients had a single base-pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the parkin gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17-68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The 202A deletion of the parkin gene causes early-onset Parkinson's disease with marked levodopa/STN-DBS-resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident.</AbstractText>
<CopyrightInformation>Copyright © 2010 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hassin-Baer</LastName>
<ForeName>Sharon</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hattori</LastName>
<ForeName>Nobutaka</ForeName>
<Initials>N</Initials>
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<Author ValidYN="Y"><LastName>Cohen</LastName>
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<Author ValidYN="Y"><LastName>Massarwa</LastName>
<ForeName>Magdalena</ForeName>
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<Author ValidYN="Y"><LastName>Israeli-Korn</LastName>
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<Author ValidYN="Y"><LastName>Inzelberg</LastName>
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<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
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<ArticleDate DateType="Electronic"><Year>2011</Year>
<Month>01</Month>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
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<ChemicalList><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber>
<NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber>
<NameOfSubstance UI="C111567">parkin protein</NameOfSubstance>
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<Chemical><RegistryNumber>JAC85A2161</RegistryNumber>
<NameOfSubstance UI="D000225">Adenine</NameOfSubstance>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D018450">Disease Progression</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005192">Family Health</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008137">Longitudinal Studies</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017384">Sequence Deletion</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D012720">Severity of Illness Index</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up.

Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki