Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia
β Scribed by Angela Magariello; Maria Muglia; Alessandra Patitucci; Rosalucia Mazzei; Francesca Luisa Conforti; Anna Lia Gabriele; Teresa Sprovieri; Carmine Ungaro; Antonio Gambardella; Michelangelo Mancuso; Gabriele Siciliano; Damiano Branca; Umberto Aguglia; Maria Vittoria de Angelis; Katia Longo; Aldo Quattrone
- Book ID
- 116792443
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 68 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0960-8966
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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