Novel  SPG6  mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia | Zendy

Kaneko Satoshi | Zendy; Kawarai Toshitaka | Zendy; Yip Edwin | Zendy; SalehiRad Shabnam | Zendy; Sato Christine | Zendy; Orlacchio Antonio | Zendy; Bernardi Giorgio | Zendy; Liang Yan | Zendy; Hasegawa Hiroshi | Zendy; Rogaeva Ekaterina | Zendy; St GeorgeHyslop Peter | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Premium

Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

Author(s) -

Kaneko Satoshi,

Kawarai Toshitaka,

Yip Edwin,

SalehiRad Shabnam,

Sato Christine,

Orlacchio Antonio,

Bernardi Giorgio,

Liang Yan,

Hasegawa Hiroshi,

Rogaeva Ekaterina,

St GeorgeHyslop Peter

Publication year - 2006

Publication title -

movement disorders

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.352

H-Index - 198

eISSN - 1531-8257

pISSN - 0885-3185

DOI - 10.1002/mds.21005

Subject(s) - hereditary spastic paraplegia , paraplegia , mutation , spastic , genetics , allele , medicine , autosomal recessive inheritance , biology , gene , phenotype , physical therapy , spinal cord , cerebral palsy , psychiatry

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

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research