Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia
β Scribed by Christos Proukakis; Paul E Hart; Amy Cornish; Thomas T Warner; Andrew H Crosby
- Book ID
- 119465660
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 129 KB
- Volume
- 201
- Category
- Article
- ISSN
- 0022-510X
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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
We set up a new denaturing high-performance liquid chromatography (DHPLC)-based protocol to screen patients with autosomal dominant hereditary spastic paraplegia (AD-HSP) for mutations in SPG4. Six patients had a complicated form and 49 a pure HSP phenotype. We also analyzed 19 unrelated patients pr