A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada.
We present phenotypic and genotypic data for an additional family with autosomal dominant sensory ataxia, a disease characterized by gait difficulties associated with diminished sensation in the limbs and areflexia. The same disease haplotype spanning the entire SNAX1 locus is observed in affected members of this second family, enabling the locus to be reduced to a 7.3-cM interval.
Valdmanis
P N
PN
Center for the Study of Brain Diseases, CHUM Research Center, Notre-Dame Hospital, Montreal, QC, Canada.
Brunet
D
D
St-Onge
J
J
Weston
L
L
Rouleau
G A
GA
Dupré
N
N
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001259:Ataxia / Q000235:genetics*; D002170:Canada; D025063:Chromosome Disorders / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D005799:Genes, Dominant / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype