一个患有常染色体显性遗传性痉挛性截瘫的日本家族中发现新型SPG6突变p.A100T 。
Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.
作者信息
Kaneko Satoshi, Kawarai Toshitaka, Yip Edwin, Salehi-Rad Shabnam, Sato Christine, Orlacchio Antonio, Bernardi Giorgio, Liang Yan, Hasegawa Hiroshi, Rogaeva Ekaterina, St George-Hyslop Peter
机构信息
Department of Neurology, Kitano Hospital, The Tazuke Kofukai Medical Institute, Osaka, Japan.
出版信息
Mov Disord. 2006 Sep;21(9):1531-3. doi: 10.1002/mds.21005.
PMID:16795073
Abstract
We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6.
摘要
我们描述了一个日本家庭，其中SPG6基因中一种新的p.A100T突变的遗传导致了常染色体显性遗传形式的遗传性痉挛性截瘫（ADHSP）。临床调查显示为单纯型HSP。我们的研究进一步证明了SPG6的等位基因异质性。
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