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
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
收藏
页码:340 / 342
页数:3
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