Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
- Kaneko, S
- Kawarai, T
- Yip, E
- Salehi Rad, S
- Sato, C
- Liang, Y
- Hasegawa, H
- Rogaeva, E
- St George Hyslop, P.
- ORLACCHIO, ANTONIO
- BERNARDI, GIORGIO
DOIAbstract
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
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