222. Mutation Analysis of Spastin (SPG4) in Patients with Hereditary Spastic Paraplegia
β Scribed by Himesha Vandebona; Nicholas P. Kerr; Carolyn M. Sue
- Book ID
- 116674780
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 40 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0967-5868
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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
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