An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?
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.
Waters
M F
MF
Division of Neurology, Burns and Allen Research Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.
Fee
D
D
Figueroa
K P
KP
Nolte
D
D
Müller
U
U
Advincula
J
J
Coon
H
H
Evidente
V G
VG
Pulst
S M
SM
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D025063:Chromosome Disorders / Q000235:genetics* / Q000503:physiopathology; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D010679:Philippines; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000503:physiopathology