Title

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

Document Type

Article

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.

Keywords

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

Publication Date

10-11-2005

Publication Title

Neurology

ISSN

1526-632X

Volume

65

Issue

7

First Page

1111

Last Page

1113

PubMed ID

16135769

Digital Object Identifier (DOI)

10.1212/01.wnl.0000177490.05162.41

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