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Article

Clinical features of hereditary spastic paraplegia due to spastin mutation.

Neurology - 11 Jul 2006

McDermott C J, Burness C E, Kirby J, Cox L E, Rao D G, Hewamadduma C, Sharrack B, Hadjivassiliou M, Chinnery P F, Dalton A, Shaw P J

Abstract excerpt

BACKGROUND: Mutations in the spastin gene are the commonest cause of hereditary spastic paraparesis (HSP), accounting for up to 40% of autosomal dominant cases. The phenotype associated with HSP due to mutation in the spastin gene (SPG4) tends to be pure HSP. OBJECTIVE: To characterize in more detail the genetic and phenotypic characteristics of SPG4 by examining a large cohort of patients with HSP. METHODS: The...

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Identifiers

PMID: 16832076
DOI: 10.1212/01.wnl.0000223315.62404.00

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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