The role of α-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies

被引：20

作者：

Hofer, A

Berg, D

Asmus, F

Niwar, M

Ransmayr, G

Riemenschneider, M

Bonelli, SB

Steffelbauer, M

Ceballos-Baumann, A

Haussermann, P

Behnke, S

Krüger, R

Prestel, J

Sharma, M

Zimprich, A

Riess, O

Gasser, T

机构：

[1] Univ Tubingen, Hertie Inst Clin Brain Res, Sect Neurodegenerat Dis, Dept Neurodegenerat Dis, D-72076 Tubingen, Germany

[2] Univ Tubingen, Dept Med Genet, Inst Human Genet, D-72076 Tubingen, Germany

[3] Gen Hosp Linz, Dept Neurol & Psychiat, Linz, Austria

[4] Tech Univ Munich, Dept Psychiat & Psychotherapy, D-8000 Munich, Germany

[5] Univ Homburg Saar, Dept Neurol, Homburg, Germany

[6] Tech Univ Munich, Dept Neurol, D-8000 Munich, Germany

[7] Univ Tubingen, Dept Gen Neurol, Hertie Inst Clin Brain Res, D-72074 Tubingen, Germany

来源：

JOURNAL OF NEURAL TRANSMISSION | 2005年 / 112卷 / 09期

关键词：

alpha-synuclein; Parkinson's disease; Lewy-body;

D O I：

10.1007/s00702-004-0263-3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background: A triplication of the alpha-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families. Method: We searched for alterations of alpha-synuclein gene dosage and analysed the entire coding region for point mutations in 54 dementia with Lewy body disease (DLB) and in 103 young onset Parkinson's disease (PD) patients from Central Europe. Results: We could not detect any quantitative alterations in the gene dosage of alpha-synuclein. Mutational screening of the entire coding region of alpha-synuclein revealed only one silent mutation V3V (adenine9guanine) in one case. Conclusions: Thus, this phenomenon appears not to be a major cause in the pathogenesis of sporadic DLB and young onset PD in this European population.

引用

页码：1249 / 1254

页数：6

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