Hereditary spastic paraplegia caused by mutations in the SPG4 gene
✍ Scribed by Bürger, Joachim; Fonknechten, Nuria; Hoeltzenbein, Maria; Neumann, Luitgart; Bratanoff, Elfriede; Hazan, Jamilé; Reis, André
- Book ID
- 110025021
- Publisher
- Nature Publishing Group
- Year
- 2000
- Tongue
- English
- Weight
- 287 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1018-4813
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Hereditary spastic paraplegia (HSP) is a heterogeneous condition characterised in its pure form by progressive lower limb spasticity. Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases. A cohort of 41 mostly pure HSP patients from Britain and Austr
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