Clinical features of parkinsonian patients with the α‐synuclein (G209A) mutation
Identifieur interne : 001393 ( Main/Corpus ); précédent : 001392; suivant : 001394Clinical features of parkinsonian patients with the α‐synuclein (G209A) mutation
Auteurs : S. Bostantjopoulou ; Z. Katsarou ; A. Papadimitriou ; V. Veletza ; G. Hatzigeorgiou ; A. LeesSource :
- Movement Disorders [ 0885-3185 ] ; 2001-11.
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- KwdEn :
Abstract
The motor and neuropsychological abnormalities in eight Greek patients with Parkinson's disease (PD) carrying the α‐synuclein gene mutation (G209A) were studied. These patients (five men, three women) belonged to six different families. Their symptoms started between 32–50 years of age (mean ± SD, 39.7 ± 7.6 years) and they had a mean disease duration of 5.4 ± 2.1 years (range, 2–9 years) at the time of examination. Rigidity and bradykinesia predominated both at disease onset as well as in the later stages and rest tremor was relatively uncommon. Neuropsychological assessment showed that one patient was mildly demented while another had impairment in memory, visuoconstructive abilities, and executive function. Depression was present in only one patient. Our findings indicate that genetic forms of parkinsonism share common motor and cognitive characteristics with sporadic PD but raise the possibility that greater cognitive impairment and the relative rarity of tremor may be distinctive features worthy of further investigation. © 2001 Movement Disorder Society.
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DOI: 10.1002/mds.1221
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ISTEX:E4F46A9904D8235E514099949B9885803F2D2A19Le document en format XML
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Their symptoms started between 32–50 years of age (mean ± SD, 39.7 ± 7.6 years) and they had a mean disease duration of 5.4 ± 2.1 years (range, 2–9 years) at the time of examination. Rigidity and bradykinesia predominated both at disease onset as well as in the later stages and rest tremor was relatively uncommon. Neuropsychological assessment showed that one patient was mildly demented while another had impairment in memory, visuoconstructive abilities, and executive function. Depression was present in only one patient. 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These patients (five men, three women) belonged to six different families. Their symptoms started between 32–50 years of age (mean ± SD, 39.7 ± 7.6 years) and they had a mean disease duration of 5.4 ± 2.1 years (range, 2–9 years) at the time of examination. Rigidity and bradykinesia predominated both at disease onset as well as in the later stages and rest tremor was relatively uncommon. Neuropsychological assessment showed that one patient was mildly demented while another had impairment in memory, visuoconstructive abilities, and executive function. Depression was present in only one patient. Our findings indicate that genetic forms of parkinsonism share common motor and cognitive characteristics with sporadic PD but raise the possibility that greater cognitive impairment and the relative rarity of tremor may be distinctive features worthy of further investigation. © 2001 Movement Disorder Society.</abstract><note type="content">*A videotape accompanies this article.</note><subject lang="en"><genre>Keywords</genre><topic>familial parkinsonism</topic><topic>α‐synuclein</topic><topic>G209A mutation</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2001</date><detail type="volume"><caption>vol.</caption><number>16</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>1007</start><end>1013</end><total>7</total></extent></part></relatedItem><identifier type="istex">E4F46A9904D8235E514099949B9885803F2D2A19</identifier><identifier type="DOI">10.1002/mds.1221</identifier><identifier type="ArticleID">MDS1221</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2001 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>John Wiley & Sons, Inc.</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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