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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