Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. Seven loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have already been mapped on chromosomes 14q, 2p, 15q, 8p, 12q, 19q, and 2q. W
A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
✍ Scribed by Sylvain Hanein; Alexandra Dürr; Pascale Ribai; Sylvie Forlani; Anne-Louise Leutenegger; Isabelle Nelson; Marie-Claude Babron; Nizar Elleuch; Christel Depienne; Céline Charon; Alexis Brice; Giovanni Stevanin
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 659 KB
- Volume
- 122
- Category
- Article
- ISSN
- 0340-6717
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## Abstract The hereditary spastic paraplegias (HSPs) are a group of clinically and genetically heterogeneous disorders characterized by progressive lower‐limb spasticity. In this study, we performed linkage analysis on an autosomal recessive pure HSP family and mapped the disease to chromosome 10q
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