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
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations
β Scribed by Ingrid K. Svenson; Mark T. Kloos; P. Craig Gaskell; Martha A. Nance; James Y. Garbern; Shin-ichi Hisanaga; Margaret A. Pericak-Vance; Allison E. Ashley-Koch; Douglas A. Marchuk
- Publisher
- Springer
- Year
- 2004
- Tongue
- English
- Weight
- 222 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1364-6745
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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) due to mutations in the spastin gene (SPG4) located to 2p22-p21 is the most common form of autosomal dominant (AD) HSP. We performed PCR-based direct sequencing of SPG4, followed by a linkage analysis and subsequent Southern blot analysis in large Japanese kindred