Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.
Journal: Movement Disorders : Official Journal Of The Movement Disorder Society
Published:
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.
Authors
Satoshi Kaneko, Toshitaka Kawarai, Edwin Yip, Shabnam Salehi Rad, Christine Sato, Antonio Orlacchio, Giorgio Bernardi, Yan Liang, Hiroshi Hasegawa, Ekaterina Rogaeva, Peter St George Hyslop
Relevant Conditions