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Case Reports
. 2004 Jan 13;62(1):103-6.
doi: 10.1212/01.wnl.0000104491.66816.77.

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

G S Grieco  1 , A Malandrini, G Comanducci, V Leuzzi, M Valoppi, A Tessa, S Palmeri, L Benedetti, A Pierallini, S Gambelli, A Federico, F Pierelli, E Bertini, C Casali, F M Santorelli
Affiliations
Case Reports

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

G S Grieco et al. Neurology. .

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.

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Comment in

  • ARSACS goes global.
    Gomez CM. Gomez CM. Neurology. 2004 Jan 13;62(1):10-1. doi: 10.1212/wnl.62.1.10. Neurology. 2004. PMID: 14718687 No abstract available.

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