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.
Original language | English |
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Pages (from-to) | 1531-1533 |
Number of pages | 3 |
Journal | Movement Disorders |
Volume | 21 |
Issue number | 9 |
DOIs | |
Publication status | Published - Sep 2006 |
Keywords
- Hereditary spastic paraplegia
- Novel missense mutation
- SPG6
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)