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Article

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

Human molecular genetics - 1 Mar 2000

Fonknechten N, Mavel D, Byrne P, Davoine C S, Cruaud C, Bönsch D, Boentsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder J M, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud'homme J F, Weissenbach J, Dürr A, Hazan J

Abstract excerpt

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a group of genetically heterogeneous neurodegenerative disorders characterized by pro- gressive spasticity of the lower limbs. Five AD-HSP loci have been mapped to chromosomes 14q, 2p, 15q, 8q and 12q. The SPG4 locus at 2p21-p22 has been shown to account for approximately 40% of all AD-HSP families. SPG4 encoding spastin, a putative nuclear AAA protein,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 10699187
DOI: 10.1093/hmg/9.4.637

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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