An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?
- 11 October 2005
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 65 (7) , 1111-1113
- https://doi.org/10.1212/01.wnl.0000177490.05162.41
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
This publication has 10 references indexed in Scilit:
- The clinical and genetic spectrum of spinocerebellar ataxia 14Neurology, 2005
- Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locusNeurology, 2004
- Mutation in the Catalytic Domain of Protein Kinase C γ and Extension of the Phenotype Associated With Spinocerebellar Ataxia Type 14Archives of Neurology, 2004
- Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesisThe Lancet Neurology, 2004
- Dominantly inherited ataxiasSeminars in Pediatric Neurology, 2003
- Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disordersCytogenetic and Genome Research, 2003
- Inherited AtaxiasPublished by Elsevier ,2003
- Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental RetardationAmerican Journal of Human Genetics, 2000
- Faster Multipoint Linkage Analysis Using Fourier TransformsJournal of Computational Biology, 1998
- Familial spastic paraparesis: Evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2American Journal of Medical Genetics, 1997