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Article

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

Archives of neurology - 1 Dec 2004

Dürr Alexandra, Camuzat Agnès, Colin Emilie, Tallaksen Chantal, Hannequin Didier, Coutinho Paula, Fontaine Bertrand, Rossi Annick, Gil Roger, Rousselle Christophe, Ruberg Merle, Stevanin Giovanni, Brice Alexis

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegias are disorders that are very heterogeneous, both clinically and genetically. The atlastin1 gene has recently been implicated in SPG3A, a form of autosomal dominant pure spastic paraplegia. Atlastin1 mutations have been identified in 8 families so far. OBJECTIVES: To determine the relative frequency, phenotype, and mutation spectrum of SPG3A in patients with pure autosomal...

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PMID: 15596607
DOI: 10.1001/archneur.61.12.1867

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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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Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.PMID 15596607Read ↗

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