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Article

SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia.

Journal of the neurological sciences - 15 Dec 2003

Wilkinson P A, Hart P E, Patel H, Warner T T, Crosby A H

Abstract excerpt

Mutations in the SPG3A gene encoding the novel GTPase atlastin have recently been implicated in causing autosomal dominant hereditary spastic paraplegia (ADHSP) in six unrelated families. The phenotype of affected individuals in all cases has been of an early onset uncomplicated form of the disease. One particular missense mutation, R239C, in exon 7 of SPG3A has been identified in three of these families. We...

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Identifiers

PMID: 14607301
DOI: 10.1016/s0022-510x(03)00210-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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