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Article

Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.

Journal of the neurological sciences - 15 Sept 2002

Proukakis Christos, Hart Paul E, Cornish Amy, Warner Thomas T, Crosby Andrew H

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous condition, characterised principally by progressive spasticity of the lower limbs. Forty percent of autosomal dominant (AD) pedigrees show linkage to the SPG4 locus on chromosome 2, which encodes spastin, an ATPase associated with diverse cellular activities (AAA) protein. We have performed a clinical and genetic study of three...

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Source

Identifiers

PMID: 12163196
DOI: 10.1016/s0022-510x(02)00192-2

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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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