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

doi:10.1007/s00415-005-0768-1

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

J Neurol. 2005 Aug;252(8):901-3. doi: 10.1007/s00415-005-0768-1. Epub 2005 Mar 8.

Authors

Valentina Scarano¹, Pietro Mancini, Chiara Criscuolo, Giuseppe De Michele, Carlo Rinaldi, Tecla Tucci, Alessandra Tessa, Filippo M Santorelli, Anna Perretti, Lucio Santoro, Alessandro Filla

Affiliation

¹ Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy.

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

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.

Publication types

Comparative Study
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Arginine / genetics*
Child
DNA Mutational Analysis / methods
Family Health
Female
GTP Phosphohydrolases / genetics*
GTP-Binding Proteins
Humans
Male
Membrane Proteins
Mutation*
Paraplegia / complications
Paraplegia / genetics*
Peripheral Nervous System Diseases / complications
Peripheral Nervous System Diseases / genetics*
Tryptophan / genetics*

Substances

Membrane Proteins
Tryptophan
Arginine
ATL1 protein, human
GTP Phosphohydrolases
GTP-Binding Proteins