title: The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.
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.
authors.affiliation: Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Scarano
authors.forename: Pietro
authors.initials: P
authors.lastname: Mancini
authors.forename: Chiara
authors.initials: C
authors.lastname: Criscuolo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Michele
authors.forename: Carlo
authors.initials: C
authors.lastname: Rinaldi
authors.forename: Tecla
authors.initials: T
authors.lastname: Tucci
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Anna
authors.initials: A
authors.lastname: Perretti
authors.forename: Lucio
authors.initials: L
authors.lastname: Santoro
authors.forename: Alessandro
authors.initials: A
authors.lastname: Filla
mesh_terms: D000293:Adolescent; D001120:Arginine / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D019204:GTP-Binding Proteins; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D009154:Mutation; D010264:Paraplegia / Q000150:complications / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D014364:Tryptophan; D001120:Arginine; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins
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