Abstract
In two families with autosomal dominant olivopontocerebellar atrophy (type IV), 15 affected and 44 unaffected members were typed for 28 genetic markers, including HLA. The lod scores for a possible HLA linkage, plotted against recombination fractions from 0.01 to 0.4, were negative. No evidence emerged for the presence of the ataxia-locus within measurable distance of the HLA-loci on chromosome 6. No indications were obtained that the ataxia-gene is linked with one of the other marker-genes.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Breuning M. H., van den Berg-Loonen E. M., Bernini L. F., Bijlsma J. B., van Loghem E., Meera Khan P., Nijenhuis L. E. Localization of HLA on the short arm of chromosome 6. Hum Genet. 1977 Jun 30;37(2):131–139. doi: 10.1007/BF00393575. [DOI] [PubMed] [Google Scholar]
- Jackson J. F., Currier R. D., Terasaki P. I., Morton N. E. Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. N Engl J Med. 1977 May 19;296(20):1138–1141. doi: 10.1056/NEJM197705192962003. [DOI] [PubMed] [Google Scholar]
- Konigsmark B. W., Weiner L. P. The olivopontocerebellar atrophies: a review. Medicine (Baltimore) 1970 May;49(3):227–241. doi: 10.1097/00005792-197005000-00003. [DOI] [PubMed] [Google Scholar]
- Meera Khan P., Doppert B. A. Rapid detection of glyoxalase I (GLO) on cellulose acetate gel and the distribution of GLO variants in a Dutch population. Hum Genet. 1976 Sep 10;34(1):53–56. doi: 10.1007/BF00284434. [DOI] [PubMed] [Google Scholar]
- Möller E., Hindfelt B., Olsson J. E. HLA--determination in families with hereditary ataxia. Tissue Antigens. 1978 Nov;12(5):357–366. doi: 10.1111/j.1399-0039.1978.tb01345.x. [DOI] [PubMed] [Google Scholar]
- Nino H. E., Noreen H. J., Dubey D. P., Resch J. A., Namboodiri K., Elston R. C., Yunis E. J. A family with hereditary ataxia: HLA typing. Neurology. 1980 Jan;30(1):12–20. doi: 10.1212/wnl.30.1.12. [DOI] [PubMed] [Google Scholar]
- Pedersen L., Platz P., Ryder L. P., Lamm L. U., Dissing J. A linkage study of hereditary ataxias and related disorders. Evidence of heterogeneity of dominant cerebellar ataxia. Hum Genet. 1980;54(3):371–383. doi: 10.1007/BF00291585. [DOI] [PubMed] [Google Scholar]
- SCHUT J. W., BOOK J. A. Hereditary ataxia; difference between progeny of male and female affected members and a definition of certain signs useful in detecting the disease prior to onset of clinical symptoms. AMA Arch Neurol Psychiatry. 1953 Aug;70(2):169–179. [PubMed] [Google Scholar]
- Wastiaux J. P., Lamoureux G., Bouchard J. P., Durivage A., Barbeau C., Barbeau A. HLA and complement typing in olivo-ponto-cerebellar atrophy. Can J Neurol Sci. 1978 Feb;5(1):75–81. [PubMed] [Google Scholar]
- Yakura H., Wakisaka A., Fujimoto S., Itakura K. Letter: Hereditary ataxia and HL-A. N Engl J Med. 1974 Jul 18;291(3):154–155. doi: 10.1056/NEJM197407182910314. [DOI] [PubMed] [Google Scholar]