Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
Identifieur interne : 001D67 ( Istex/Checkpoint ); précédent : 001D66; suivant : 001D68Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
Auteurs : Satoshi Kaneko [Japon] ; Toshitaka Kawarai [Canada] ; Edwin Yip [Canada] ; Shabnam Salehi-Rad [Canada] ; Christine Sato [Canada] ; Antonio Orlacchio [Italie] ; Giorgio Bernardi [Italie] ; Yan Liang [Canada] ; Hiroshi Hasegawa [Canada] ; Ekaterina Rogaeva [Canada] ; Peter St George-Hyslop [Canada]Source :
- 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
Affiliations:
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<front><div type="abstract" xml:lang="en">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</div>
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