Hostname: page-component-cd9895bd7-jn8rn Total loading time: 0 Render date: 2024-12-26T06:03:30.189Z Has data issue: false hasContentIssue false
  • English
  • Français

HLA and Complement Typing in Olivo-ponto-cerebellar Atrophy

Published online by Cambridge University Press:  18 September 2015

J. P. Wastiaux ,
G. Lamoureux ,
J. P. Bouchard ,
A. Durivage ,
C. Barbeau  and
A. Barbeau
J. P. Wastiaux
Affiliation:
Section on Clinical Immunology, Centre de Recherches en Immunologie, Institut Armand Frappier, Laval; l'Hôpital de l'Enfant-Jésus, Québec; and the Clinical Research Institute of Montreal
G. Lamoureux
Affiliation:
Section on Clinical Immunology, Centre de Recherches en Immunologie, Institut Armand Frappier, Laval; l'Hôpital de l'Enfant-Jésus, Québec; and the Clinical Research Institute of Montreal
J. P. Bouchard
Affiliation:
Section on Clinical Immunology, Centre de Recherches en Immunologie, Institut Armand Frappier, Laval; l'Hôpital de l'Enfant-Jésus, Québec; and the Clinical Research Institute of Montreal
A. Durivage
Affiliation:
Section on Clinical Immunology, Centre de Recherches en Immunologie, Institut Armand Frappier, Laval; l'Hôpital de l'Enfant-Jésus, Québec; and the Clinical Research Institute of Montreal
C. Barbeau
Affiliation:
Section on Clinical Immunology, Centre de Recherches en Immunologie, Institut Armand Frappier, Laval; l'Hôpital de l'Enfant-Jésus, Québec; and the Clinical Research Institute of Montreal
A. Barbeau*
Affiliation:
Section on Clinical Immunology, Centre de Recherches en Immunologie, Institut Armand Frappier, Laval; l'Hôpital de l'Enfant-Jésus, Québec; and the Clinical Research Institute of Montreal
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal, Quebec, Canada H2W 1R7
Rights & Permissions [Opens in a new window]

Summary:

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

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, (β -1A, (β-1C, C5, (β -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 β -lipoproteins were found to be significantly reduced in some sub-groups of subjects.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Information
Canadian Journal of Neurological Sciences , Volume 5 , Issue 1 , February 1978 , pp. 75 - 81
Copyright
Copyright © Canadian Neurological Sciences Federation 1978

References

REFERENCES

Bach, F.H. and Van Rood, J.J. (1976). The major histocompatibility complex — genetics and biology (in 3 parts). New Engl. J. Med., 295: 806–812; 872–878 and 927–935.Google Scholar
Bassen, F.A. and Kornzweig, A.L. (1950). Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood, 5, 381–387.Google Scholar
Calin, A. and Fries, J.F. (1975). Striking prevalence of ankylosing spondylitis in “healthy” W27 positive males and females: a controlled study. New Engl. J. Med., 293, 835–839.CrossRefGoogle Scholar
Cudworth, A.G. and Woodrow, J.C. (1975). Evidence for HL-A-linked genes in “juvenile” diabetes mellitus. Br. Med. J., 3, 133–135.CrossRefGoogle ScholarPubMed
Fahey, J. L. and McKelvey, E.M. (1965). Quantitative determination of serum immuno-globulins in antibody agar plates. J. of Immunol., 94, 84–90.Google Scholar
Francke, U. and Pellegrino, M.A. (1977). Assignment of the major histocompatibility complex to a region of the short arm of human chromosome 6. Proc. Natl. Acad. Sci. U.S.A., 74, 1147–1151.CrossRefGoogle ScholarPubMed
Jackson, J.F., Currier, R.D., Terasaki, P.E. and Morton, E.N. (1977). Spinocerebellar ataxia and HLA linkage. New Engl. J. Med., 296, 1138–1141.CrossRefGoogle ScholarPubMed
Jersild, C, Rubinstein, P. and Day, N.K. (1976). The HLA System and Inherited Deficiencies of the Complement System. Transplant. Rev., 32, 43–71.Google Scholar
Lamm, L.U., Friedrich, U., Petersen, G.B., Jorgensen, J., Nielsen, J., Therkelsen, A.J. and Kissmeyer-Nielsen, F. (1974). Assignment of the major histocompatibility complex to chromosome No. 6 in a family with a pericentric inversion. Human Hered., 24, 243–284.Google Scholar
Mancini, G., Carbonaro, A.O., and Heremans, J.S. (1965). Immunochemical quantitation of antigens by single radial immunodiffusion. Immuno Chem., 2, 235–254.Google Scholar
Mars, H., Lewis, L.A., Robertson, A.L., Butkus, A. and Williams, G.H. (1969). Familial hypo-beta-proteinemia. Amer. J. Med., 46, 886–900.CrossRefGoogle Scholar
McKusik, V.A. (1975). Mendelian Inheritance in Man. — Catalogs of Autosomal Dominant, Autosomal Recessive and X-linked Phenotypes. Johns Hopkins Univ. Press, Baltimore, ed. 4, 1975.Google Scholar
Mckusik, V.A. and Ruddle, F.H. (1977). The status of the Gene Map of the Human chromosomes. Science, 196, 390–405.Google Scholar
Mittal, K.K., Mickey, M.R., Singal, D.P. and Terasaki, P.I. (1968). Refinement of microdroplet lymphocyte cytotoxicity test. Transplant. 6, 913–927.CrossRefGoogle ScholarPubMed
Neel, J.V. (1977).HLA and disease susceptibility: a primer. New Engl. J. Med., 297, 1060–1063.Google Scholar
Rittner, C, Hauptmann, G., Grosse-Wilde, H., Grosshans, E., Tongio, M. M. and Mayer, S 1975). Linkage between HL-A (Major histocompatibility complex) and genes controlling the synthesis of the fourth component of complement. In: Histocompatibility Testing 1975, ed. Kissmeyer-Nielsen, F., Munksgaard, Copenhagen.Google Scholar
Rubinstein, P., Suciv-Foca, N. and Nicholson, J.F. (1977). Genetics of juvenile diabetes mellitus — a recessive gene closely linked to HLA-D and with a 50 percent penetrance. New Engl. J. Med., 297, 1036–1040.CrossRefGoogle Scholar
Svejgaard, A., Hauge, M., Jersild, C, Platz, P., Ryder, L.P., Staub Nielsen, , :. and Thomsen, M. (1975). The HLA System — an introductory survey. In: Monographs in Human Genetics No. 7, ed. Beckman, L. and Hauge, M., Karger, S.,Basel, pp. 1–103.Google Scholar
Terasaki, P.I. and McClelland, J.D. (1964). Microdroplet assay of human serum cytotoxins. Nature, 204, 998–1000.CrossRefGoogle ScholarPubMed
Yakura, H., Wakisaka, A., Fu-Jimoto, S. and Itakura, K. (1974). Hereditary ataxia and HL-A genotypes. New Engl. J. Med., 291, 154–155.Google Scholar