Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial disease with prominent myelinated fibers in the optic fundus. ARSACS is frequent in the Charlevoix-Saguenay region of Quebec but rare elsewhere. Mutations in SACS, encoding sacsin, a protein of unknown function, are associated with ARSACS. The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation.
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type / Grieco, Gs; Malandrini, A; Comanducci, G; Leuzzi, Vincenzo; Valoppi, ; Tessa, A; Palmeri, S; Benedetti, L; Pierallini, Alberto; Gambelli, S; Federico, A; Pierelli, Francesco; Bertini, E; Casali, Carlo; Santorelli, Fm. - In: NEUROLOGY. - ISSN 0028-3878. - STAMPA. - 62:1(2004), pp. 103-106.
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type
LEUZZI, Vincenzo;PIERALLINI, Alberto;PIERELLI, Francesco;CASALI, Carlo;
2004
Abstract
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial disease with prominent myelinated fibers in the optic fundus. ARSACS is frequent in the Charlevoix-Saguenay region of Quebec but rare elsewhere. Mutations in SACS, encoding sacsin, a protein of unknown function, are associated with ARSACS. The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
