Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications
Identifieur interne : 002E87 ( Istex/Curation ); précédent : 002E86; suivant : 002E88Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications
Auteurs : Din-E Shan [République populaire de Chine] ; Ren-Shyan Liu [République populaire de Chine] ; Chen-Ming Sun [République populaire de Chine] ; Shwn-Jen Lee [République populaire de Chine] ; Kwong-Kum Liao [République populaire de Chine] ; Bing-Wen Soong [République populaire de Chine]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-11.
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Abstract
Among 242 patients with apparently sporadic Parkinson's disease, a 70‐year‐old man with a CAG repeat number of 37 in the SCA2 gene was identified. He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is not possible to confirm if this patient has a de novo mutation of the SCA2 gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late‐onset, levodopa‐responsive Parkinson's disease may have multiple causes. © 2004 Movement Disorder Society
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DOI: 10.1002/mds.20212
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of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2004-11">2004-11</date><biblScope unit="vol">19</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1357">1357</biblScope><biblScope unit="page" to="1360">1360</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">B11898E0548595DD2AFDFC0CB340F96282A7589D</idno><idno type="DOI">10.1002/mds.20212</idno><idno type="ArticleID">MDS20212</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>PET</term><term>Parkinson's disease</term><term>SCA2</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Among 242 patients with apparently sporadic Parkinson's disease, a 70‐year‐old man with a CAG repeat number of 37 in the SCA2 gene was identified. He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is not possible to confirm if this patient has a de novo mutation of the SCA2 gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late‐onset, levodopa‐responsive Parkinson's disease may have multiple causes. © 2004 Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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