An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus? Neurology 2005 Oct 11;65(7):1111-3
Date
09/02/2005Pubmed ID
16135769DOI
10.1212/01.wnl.0000177490.05162.41Scopus ID
2-s2.0-26444545060 (requires institutional sign-in at Scopus site) 38 CitationsAbstract
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.
Author List
Waters MF, Fee D, Figueroa KP, Nolte D, Müller U, Advincula J, Coon H, Evidente VG, Pulst SMAuthor
Dominic B. Fee MD Vice Chair, Professor in the Neurology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdultAged
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
