多系统萎缩的遗传学研究

• 作 者: Soma H Yabe I Takei A. 蔡同建
• 机 构: Department of Neurology Hokkaido University Graduate School of Medicine N15W7 Kita-Ku Sapporo Hokka
• 出 处: 世界核心医学期刊文摘(神经病学分册)
• 发表日期: 2006年05期
• 关键词: 多系统萎缩 神经变性疾病 遗传学 神经系统 临床表型 族性 影像研究 病例

We investigated the family histories of 157 Japanese patients with probable or possible multiple system atrophy (MSA). A family history of neurodegenerative disorders was only detected in three MSA patients (1.9% ). We evaluated these patients by careful neurological examination, neuroimaging studies, and genetic studies to exclude hereditary spinocerebellar ataxia with a similar clinical phenotype to MSA. The results indicated that one of them had a family history of MSA. Although the familial presence of neurodegenerative disorders is rare in MSA patients, the existence of such cases suggests that MSA may have a genetic background.

We investigated the family histories of 157 Japanese patients with probable or possible multiple system atrophy (MSA). A family history of neurodegenerative disorders was only detected in three MSA patients (1.9%). We evaluated these patients by careful neurological examination, neuroimaging studies, and the genetic studies to exclude hereditary spinocerebellar ataxia with a similar clinical phenotype to MSA. The results indicated that one of them had a family history of MSA. MSA may have a genetic background.