A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada.
case_series · Level IV
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- Record sourced from PubMed, PMID 17190954.
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Abstract
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.
Medical subject headings
- Ataxia
- Chromosome Disorders
- Chromosomes, Human, Pair 8
- Heterozygote