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Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia

✍ 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

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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