Journal of Neurology

, Volume 252, Issue 8, pp 901–903 | Cite as

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
ORIGINAL COMMUNICATION

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.

Key words

hereditary spastic paraplegia atlastin dynamin axonal neuropathy 

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Copyright information

© Steinkopff-Verlag 2005

Authors and Affiliations

  • Valentina Scarano
    • 1
  • Pietro Mancini
    • 1
  • Chiara Criscuolo
    • 1
  • Giuseppe De Michele
    • 1
  • Carlo Rinaldi
    • 1
  • Tecla Tucci
    • 1
  • Alessandra Tessa
    • 2
  • Filippo M. Santorelli
    • 2
  • Anna Perretti
    • 1
  • Lucio Santoro
    • 1
  • Alessandro Filla
    • 1
  1. 1.Dipartimento di Scienze NeurologicheUniversità degli Studi di Napoli Federico IINapoliItaly
  2. 2.Molecular Medicine & NeurologyIRCCS-Bambino Gesù HospitalRomeItaly

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