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Article

Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.

Neurology - 14 Nov 2000

Hentati A, Deng H X, Zhai H, Chen W, Yang Y, Hung W Y, Azim A C, Bohlega S, Tandan R, Warner C, Laing N G, Cambi F, Mitsumoto H, Roos R P, Boustany R M, Ben Hamida M, Hentati F, Siddique T

Abstract excerpt

Autosomal dominant hereditary spastic paraplegia is genetically heterogeneous, with at least five loci identified by linkage analysis. Recently, mutations in spastin were identified in SPG4, the most common locus for dominant hereditary spastic paraplegia that was previously mapped to chromosome...

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Identifiers

PMID: 11087788
DOI: 10.1212/wnl.55.9.1388

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11087788-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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