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Rapid Detection of the Sacsin Mutations Causing Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

2001; Mary Ann Liebert, Inc.; Volume: 5; Issue: 3 Linguagem: Inglês

10.1089/10906570152742326

1557-7473

Jocelyne Mercier, Claude Prévost, James C. Engert, Jean‐Pierre Bouchard, Jean Mathieu, Andréa Richter,

Neurological diseases and metabolism

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS; MIM SACS 270550) is frequent in northeastern Québec. Two causal mutations have been identified in the 11.7-kb single exon sacsin gene by sequence-based analyses. Mutation g.6594delT (ΔT) was reported in 96% of the patients whereas a g.5254C → T nonsense mutation has been observed only in 2 families. Here we report a reliable and inexpensive method to detect more than 95% of the ARSACS disease alleles from northeastern Québec using allele-specific oligonucleotide (ASO) hybridization. This procedure is being incorporated into the diagnosis of ARSACS, as well as being used for carrier detection in at-risk families from northeastern Québec.