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
Autosomal dominant hereditary spastic paraplegia: report of a large italian family with R581X spastin mutation
β Scribed by P. Aridon; P. Ragonese; M. De Fusco; D. Lo Coco; G. Salemi; G. Casari; G. Savettieri
- Publisher
- Springer Milan
- Year
- 2007
- Tongue
- English
- Weight
- 113 KB
- Volume
- 28
- Category
- Article
- ISSN
- 1590-1874
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Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia 4 linked to chromosome 2p (SPG4) is the most co
## 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__.