Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

HLA antigen typing was carried out in a family with an autosomal dominant form of spinocerebellar degeneration [possibly olivoponto cerebellar atrophy (O.P.C.A.)--Type 1]. Eleven ataxic patients, three possibly ataxic subjects, two unrelated spouses and 13 clinically normal at risk siblings were typed for ABO and Rh blood groups, HLA-A and HLA-B antigens, C4 component of the complement and a number of other serum proteins (Clq, beta-1A, beta-1C, C5, beta-lipoproteins). No solid evidence for linkage between the ataxia gene and the HLA or C4 loci could be demonstrated in this family. Certain serum proteins, and particularly beta-lipoproteins were found to be significantly reduced in some sub-groups of subjects.
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PMID:HLA and complement typing in olivo-ponto-cerebellar atrophy. 64 1

Two large Italian pedigrees with HLA-linked spinocerebellar ataxia (SCA1) were typed for HLA-A, -B and -DR as well as for markers either distal (F13A, D6S8) or proximal (D6S29, GLO1) to HLA. Pairwise linkage analyses of SCA1 vs. HLA-A, -B, and -DR showed peak lodscores of 5.3, 5.6 and 3.3 respectively at 7% recombination. Negative lodscores significantly excluded linkage with F13A at less than 5% and with GLO1 at less than 10%. The lodscores with D6S8 and D6S29 had only low peaks. Recombination events in the two pedigrees and the estimated genetic distances of SCA1 from GLO1 and HLA favour the hypothesis of a SCA1 location distal to both of them. An order cen-GLO1-HLA-SCA1-tel appears therefore most likely with present data. These results are discussed in relation to previous reports placing SCA1 distal to HLA in two families and
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PMID:Spinocerebellar ataxia (SCA1) in two large Italian kindreds: evidence in favour of a locus position distal to GLO1 and the HLA cluster. 167 45

Two large kindreds with HLA-linked, autosomal dominant spinocerebellar ataxia (SCA1) were examined with markers from chromosome 6p to determine the location of the SCA1 locus. Results of the three-point analysis between the markers HLA-A, SCA1, and F13A overwhelmingly favor the conclusion that SCA1 is located distal of HLA and proximal of F13A. In addition, our data strongly support the conclusion that SCA1 lies centromeric and genetically very close to the highly informative D6S89 marker within the 8-cM chromosomal segment flanked by the D6S88 and D6S89 markers. In the two kindreds, one recombinant was observed between D6S89 and SCA1, resulting in a recombination fraction of .014 between the two loci.
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PMID:Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p. 167 61

SCA1 is an adult-onset autosomal dominant ataxia that is genetically linked to loci on chromosome 6p. A highly informative GT-repeat marker, D6S89, has been closely linked to the SCA1 locus in five large kindreds. We have used this marker to perform linkage analysis in a smaller autosomal dominant ataxia family consisting of five generations designated as the Nebraska kindred. This kindred includes 33 affected (12 living) and 40 first-generation at-risk individuals. We examined eight affected individuals; all had gait and limb ataxia. We analyzed the D6S89 locus by the polymerase chain reaction. Based on the analysis of 31 individuals from this kindred, we statistically excluded linkage to D6S89 for moderate-to-tight linkage (less than 11% recombination). These data clearly demonstrate genetic heterogeneity among the autosomal dominant ataxias. In addition, we obtained linkage data for HLA-A and SCA1 in this kindred. Comparison of HLA-A with D6S89 shows the latter marker to be more powerful. Use of D6S89 and other highly polymorphic markers in this region will greatly facilitate genetic classification of ataxias and make presymptomatic diagnosis of SCA1 feasible.
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PMID:Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred. 173 63

Published data on two cases of linkage disequilibrium in Yakuts are analyzed. These are the disequilibria between loci HLA-A and HLA-B and between the mutation of gene SCA1 responsible for type 1 spinocerebellar ataxia and its flanking microsatellites D6S274 and D6S89. Both cases are regarded as consequences of the founder effect. The genetic archeological approach has been used to calculate the historical period when the mutant SCA1 gene and the HLA-A1\B17 haplotype spread in the population. It has been found that this was approximately 60-70 generations (1500-1750 years) ago in both cases. The time of the segregation of haplotype HLA-A1\B17 has also been calculated for some other populations. Caucasoids have proved to be the oldest carriers of this gene, which agrees with the well-known notion that HLA-A1 originated in Indo-Europeans. The general distribution of HLA genes in Yakuts is similar to that in east-central Asian Mongoloids; therefore, it is concluded that that Yakuts are east-central Asian Mongoloids by origin, except for the founder that had haplotype A1\B17. Historically, the time of the appearance of this haplotype coincided with the period when Saks conquered east-central Asia; therefore, it is hypothesized that the aforementioned founder was a Sak.
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PMID:[Genetic archaeologic perspective on the origin of Yakuts]. 1517 90