Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

doi:10.1001/archneur.63.5.750

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Article

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

Archives of neurology - 1 May 2006

Crippa Francesca, Panzeri Chris, Martinuzzi Andrea, Arnoldi Alessia, Redaelli Francesca, Tonelli Alessandra, Baschirotto Cinzia, Vazza Giovanni, Mostacciuolo Maria Luisa, Daga Andrea, Orso Genny, Profice Paolo, Trabacca Antonio, D'Angelo Maria Grazia, Comi Giacomo Pietro, Galbiati Sara, Lamperti Costanza, Bonato Sara, Pandolfo Massimo, Meola Giovanni, Musumeci Olimpia, Toscano Antonio, Trevisan Carlo Pietro, Bresolin Nereo, Bassi Maria Teresa

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous disorders characterized by progressive spasticity of the lower limbs. Mutations in the SPG4 gene, which encodes spastin protein, are responsible for up to 45% of autosomal dominant cases. OBJECTIVE: To search for disease-causing mutations in a large series of Italian patients with HSP. DESIGN: Samples of DNA were analyzed by...

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PMID: 16682546
DOI: 10.1001/archneur.63.5.750

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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