Quantitative PCR-based screening of α-synuclein multiplication in multiple system atrophy

被引：25

作者：

Lincoln, Sarah J.

Ross, Owen A.

Milkovic, Nicole M.

Dickson, Dennis W.

Rajput, Alex

Robinson, Christopher A.

Papapetropoulos, Spiridon

Mash, Deborah C.

Farrer, Matthew J.

机构：

[1] Mayo Clin, Dept Neurosci, Mol Genet Lab & Core, Jacksonville, FL 32224 USA

[2] Mayo Clin, Morris K Udall Parkinsons Dis Res Ctr Excellence, Jacksonville, FL 32224 USA

[3] Mayo Clin, Coll Med, Dept Pathol, Jacksonville, FL 32224 USA

[4] Univ Saskatchewan & Saskatoon Hlth Reg, Div Neurol, Saskatoon, SK, Canada

[5] Univ Saskatchewan & Saskatoon Hlth Reg, Dept Pathol, Saskatoon, SK, Canada

[6] Royal Univ Hosp, Saskatchewan Ctr Parkinsons Dis & Movement Disord, Saskatoon, SK S7N 0W8, Canada

[7] Univ Miami, Dept Neurol, Miller Sch Med, Miami, FL 33152 USA

来源：

PARKINSONISM & RELATED DISORDERS | 2007年 / 13卷 / 06期

关键词：

quantitative PCR; alpha-synuclein; genomic multiplication; multiple system atrophy;

D O I：

10.1016/j.parkreldis.2006.12.005

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Multiple system atrophy (MSA) is by nature a 'sporadic' disease with no evidence of familial aggregation observed. However, the alpha-synuclein locus (SNCA) multiplication families have clinically displayed parkinsonism and autonomic dysfunction. The present study did not find any SNCA multiplications in a series of 58 pathologically confirmed MSA cases excluding this event as a common cause of MSA. The question of a genetic component in MSA remains to be answered. (c) 2007 Elsevier Ltd. All rights reserved.

引用

页码：340 / 342

页数：3

共 22 条

[1] Multiple system atrophy (MSA):: Topographic distribution of the α-synuclein-associated pathological changes [J].