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Article

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

Journal of neurology - 1 Aug 2005

Scarano Valentina, Mancini Pietro, Criscuolo Chiara, De Michele Giuseppe, Rinaldi Carlo, Tucci Tecla, Tessa Alessandra, Santorelli Filippo M, Perretti Anna, Santoro Lucio, Filla Alessandro

Abstract excerpt

Mutations in the SPG3A gene cause a form of pure, early-onset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellular trafficking patterns. We report a new atlastin mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family.

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PMID: 15742100
DOI: 10.1007/s00415-005-0768-1

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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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