title: Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.
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.
authors.affiliation: Service de Génétique Médicale, Hôpital Sainte-Justine, 3175 Côte Sainte-Catherine, H3T 1C5, Montréal, Québec, Canada. andrea.richter@umontreal.ca
authors.forename: Andrea M
authors.initials: AM
authors.lastname: Richter
authors.forename: Riza Koksal
authors.initials: RK
authors.lastname: Ozgul
authors.forename: Virginie C
authors.initials: VC
authors.lastname: Poisson
authors.forename: Haluk
authors.initials: H
authors.lastname: Topaloglu
mesh_terms: D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000235:genetics*; D002648:Child; D002882:Chromosomes, Human, Pair 13; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006360:Heat-Shock Proteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D017422:Sequence Analysis, DNA; D014421:Turkey
chemical_list: D005819:Genetic Markers; D006360:Heat-Shock Proteins; C404403:SACS protein, human