Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up.
Identifieur interne : 001272 ( PubMed/Corpus ); précédent : 001271; suivant : 001273Phenotype 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 InzelbergSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
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:21506149Le 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>
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<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>
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<author><name sortKey="Massarwa, Magdalena" sort="Massarwa, Magdalena" uniqKey="Massarwa M" first="Magdalena" last="Massarwa">Magdalena Massarwa</name>
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<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>
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<author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name>
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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>
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<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>
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<author><name sortKey="Massarwa, Magdalena" sort="Massarwa, Magdalena" uniqKey="Massarwa M" first="Magdalena" last="Massarwa">Magdalena Massarwa</name>
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<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>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adenine</term>
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<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>
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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" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
<term>Sequence Deletion</term>
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<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinson Disease</term>
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<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>
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<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>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up.</ArticleTitle>
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<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>
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