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Article

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

Brain : a journal of neurology - 1 Oct 1996

Dürr A, Davoine C S, Paternotte C, von Fellenberg J, Cogilinicean S, Coutinho P, Lamy C, Bourgeois S, Prud'homme J F, Penet C, Mas J L, Burgunder J M, Hazan J, Weissenbach J, Brice A, Fontaine B

Abstract excerpt

We report the clinical features of 12 families with autosomal dominant spastic paraplegia (ADSP) linked to the SPG4 locus on chromosome 2p, the major locus for this disorder that accounts for approximately 40% of the families. Among 93 gene carriers, 32 (34%) were unaware of symptoms but were cli...

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Identifiers

PMID: 8931574
DOI: 10.1093/brain/119.5.1487

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8931574-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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