Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
β Scribed by Angela Magariello; Maria Muglia; Alessandra Patitucci; Carmine Ungaro; Rosalucia Mazzei; Anna Lia Gabriele; Teresa Sprovieri; Luigi Citrigno; Francesca Luisa Conforti; Maria Liguori; Antonio Gambardella; Francesco Bono; Tommaso Piccoli; Francesco Patti; Mario Zappia; Michelangelo Mancuso; Franco Iemolo; Aldo Quattrone
- Book ID
- 119303578
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 699 KB
- Volume
- 288
- 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
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