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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Aged
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Aged, 80 and over
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Chromosome Disorders / genetics*
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Chromosome Disorders / physiopathology
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Chromosome Mapping
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Chromosomes, Human, Pair 19 / genetics*
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DNA Mutational Analysis
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Female
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Genes, Dominant / genetics*
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Genetic Linkage / genetics
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genotype
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Haplotypes
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Humans
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Male
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Middle Aged
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Mutation / genetics*
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Pedigree
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Penetrance
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Phenotype
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Philippines
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Spinocerebellar Ataxias / genetics*
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Spinocerebellar Ataxias / physiopathology