Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I.
The autosomal dominant cerebellar ataxias (ADCA) are clinically and genetically heterogeneous. To date, several loci (SCAI-V) have been identified for ADCA type I. We have studied two large families from the northern part of The Netherlands with ADCA type I with a broad intra-familial variation of symptoms. In both families significant linkage is shown of the disease to the markers of the SCA3 locus on chromosome 14. Through recombinations, the candidate region for SCA3 could be refined to a 13-cM range between D14S256 and D14S81. No recombinations were detected with the markers D14S291 and D14S280, which suggests that the SCA3 gene lies close to these loci. This finding will benefit the individuals at risk in these two families who are seeking predictive testing or prenatal diagnosis.
Department of Medical Genetics, University of Groningen, The Netherlands.
C C
CC
Verschuuren-Bemelmans
E R
ER
Brunt
M
M
Burton
R G
RG
Mensink
M A
MA
van der Meulen
N H
NH
Smit
I
I
Stolte-Dijkstra
C H
CH
Buys
H
H
Scheffer
D000328:Adult; D000368:Aged; D002524:Cerebellar Ataxia / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008214:Lymphocytes / Q000166:cytology / Q000473:pathology; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011237:Predictive Value of Tests; D011296:Prenatal Diagnosis; D012091:Repetitive Sequences, Nucleic Acid; D012307:Risk Factors
D005819:Genetic Markers