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Article

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

Nature genetics - 1 Nov 1999

Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine C S, Cruaud C, Dürr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder J M, Prud'homme J F, Brice A, Fontaine B, Heilig B, Weissenbach J

Abstract excerpt

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of the lower limbs. Among the four loci causing AD-HSP identified so far, the SPG4 locus at chromosome 2p2-1p22 has been shown to account for 40-50% of all AD-HSP families. Using a positional cloning strategy based on obtaining sequence of the entire SPG4...

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Identifiers

PMID: 10610178
DOI: 10.1038/15472

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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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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.PMID 10610178Read ↗

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