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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)901-903
Number of pages3
JournalJournal of Neurology
Volume252
Issue number8
DOIs
Publication statusPublished - Aug 2005

Keywords

  • Atlastin
  • Axonal neuropathy
  • Dynamin
  • Hereditary spastic paraplegia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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