Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
Identifieur interne : 003A19 ( Istex/Corpus ); précédent : 003A18; suivant : 003A20Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
Auteurs : Satoshi Kaneko ; Toshitaka Kawarai ; Edwin Yip ; Shabnam Salehi-Rad ; Christine Sato ; Antonio Orlacchio ; Giorgio Bernardi ; Yan Liang ; Hiroshi Hasegawa ; Ekaterina Rogaeva ; Peter St George-HyslopSource :
- Movement Disorders [ 0885-3185 ] ; 2006-09.
English descriptors
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. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21005
Links to Exploration step
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