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. 2005 Oct 11;65(7):1111-3.
doi: 10.1212/01.wnl.0000177490.05162.41. Epub 2005 Aug 31.

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

M F Waters  1 , D Fee, K P Figueroa, D Nolte, U Müller, J Advincula, H Coon, V G Evidente, S M Pulst
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An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

M F Waters et al. Neurology. .

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.

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