Quantitative PCR-based screening of α-synuclein multiplication in multiple system atrophy
Quantitative PCR-based screening of α-synuclein multiplication in multiple system atrophy
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DOI：
10.1016/j.parkreldis.2006.12.005
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发表时间：
2007-01-01
影响因子：
4.1
通讯作者：
Farrer, Matthew J.
中科院分区：
文献类型：
--
作者：
Lincoln, Sarah J.;Ross, Owen A.;Farrer, Matthew J.
多系统萎缩症（MSA）本质上是一种“散发性”疾病，没有观察到家族聚集的证据。然而，α-突触核蛋白基因座（SNCA）倍增家族在临床上表现出帕金森综合征和自主神经功能障碍。本研究在一系列58例经病理证实的MSA病例中未发现任何SNCA倍增，排除此事件作为MSA的常见原因。MSA中的遗传成分的问题仍有待回答。(c)2007爱思唯尔有限公司保留所有权利。
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.