## 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__.
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia
โ Scribed by Johanna A. Reed; Phillip A. Wilkinson; Heema Patel; Michael A. Simpson; Arnaud Chatonnet; Dimitri Robay; Michael A. Patton; Andrew H. Crosby; Thomas T. Warner
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 351 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1364-6745
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
We have reinvestigated a large kindred identified over 25 years ago segregating for a form of pure autosomal dominant hereditary spastic paraplegia (HSP). We have examined additional relatives in order to refine the clinical and genetic characteristics of this disorder, and performed an analysis to
## Communicated by Christine Van Broeckhoven Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by lower-limb spasticity, hyperreflexia, progressive spastic gait abnormalities, and an extensor-plantar response. It is genetically very heterogeneous, with 28 Human Genome