An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?
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.
Adult, Aged, Aged, 80 and over, Chromosome Disorders, Chromosome Mapping, Chromosomes, Human, Pair 19, DNA Mutational Analysis, Female, Genes, Dominant, Genetic Linkage, Genetic Predisposition to Disease, Genetic Testing, Genotype, Haplotypes, Humans, Male, Middle Aged, Mutation, Pedigree, Penetrance, Phenotype, Philippines, Spinocerebellar Ataxias
Medical Subject Headings
Adult; Aged; Aged, 80 and over; Chromosome Disorders; Chromosome Mapping; Chromosomes, Human, Pair 19; DNA Mutational Analysis; Female; Genes, Dominant; Genetic Linkage; Genetic Predisposition to Disease; Genetic Testing; Genotype; Haplotypes; Humans; Male; Middle Aged; Mutation; Pedigree; Penetrance; Phenotype; Philippines; Spinocerebellar Ataxias
Digital Object Identifier (DOI)
Waters, M F; Fee, D; Figueroa, K P; Nolte, D; Müller, U; Advincula, J; Coon, H; Evidente, V G; and Pulst, S M, "An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?" (2005). Translational Neuroscience. 1501.