NIPA1(SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe
โ Scribed by Stephan Klebe; Arnaud Lacour; Alexandra Durr; Tanya Stojkovic; Christel Depienne; Sylvie Forlani; Sandrine Poea-Guyon; Isabelle Vuillaume; Bernard Sablonniere; Patrick Vermersch; Alexis Brice; Giovanni Stevanin
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 71 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1364-6745
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
## 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
## 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__.
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia linked to the SPG3A locus on chromosome 14q11-2