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.
- Hereditary spastic paraplegia
- Novel missense mutation
ASJC Scopus subject areas
- Clinical Neurology