An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?
case_series · Level IV
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Abstract
The autosomal dominant spinocerebellar ataxias (ADCAs) represent a growing and heterogeneous disease phenotype. Clinical characterization of a three-generation Filipino family segregating a dominant ataxia revealed cerebellar signs and symptoms. After elimination of known spinocerebellar ataxia (SCA) loci, a genome-wide linkage scan revealed a disease locus in a 4-cM region of 19q13, with a 3.89 lod score. This region overlaps and reduces the SCA13 locus. However, this ADCA is clinically distinguishable from SCA13.
Medical subject headings
- Chromosome Disorders
- Chromosomes, Human, Pair 19
- Genes, Dominant
- Genetic Predisposition to Disease
- Mutation
- Spinocerebellar Ataxias