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Neurogenetics. 2004 Sep;5(3):165-70. Epub 2004 May 20.

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.

Author information

1
Service de Génétique Médicale, Hôpital Sainte-Justine, 3175 Côte Sainte-Catherine, H3T 1C5, Montréal, Québec, Canada. andrea.richter@umontreal.ca

Abstract

We studied five families with pediatric-onset recessive spastic ataxia from Turkey. The clinical characteristics and linkage studies are compatible with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). SACS mutations are responsible for ARSACS in Québec families. In four of the five families tested we detected new disease-causing mutations using automated sequencing of SACS. Our study raises to 12 the number of SACS mutations detected in ARSACS patients with origins around the Mediterranean basin.

PMID:
15156359
DOI:
10.1007/s10048-004-0179-y
[Indexed for MEDLINE]
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