The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.
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.
Scarano
Valentina
V
Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy.
Mancini
Pietro
P
Criscuolo
Chiara
C
De Michele
Giuseppe
G
Rinaldi
Carlo
C
Tucci
Tecla
T
Tessa
Alessandra
A
Santorelli
Filippo M
FM
Perretti
Anna
A
Santoro
Lucio
L
Filla
Alessandro
A
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*
D008565:Membrane Proteins; D014364:Tryptophan; D001120:Arginine; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins
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