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A family with hereditary ataxia

HLA typing

Department of Neurology (Drs. Nino and Resch) and the Department of Laboratory Medicine (Ms. Noreen), University of Minnesota, Minneapolis, MN, the Department of Biostatistics (Drs. Elston and Namboodiri), University of North Carolina at Chapel Hill, NC, and the Division of Immunogenetics, Sidney Farber Cancer Institute, Harvard Medical School, and the Northeast Regional Red Cross Blood Program, Boston, MA (Drs. Dubey and Yunis).

In a previously unreported family with olivopontocerebellar atrophy, the kindred contained over 600 individuals in five generations. Of 83 offspring of affected individuals who are over 38.8 years of age (the mean age of the onset of disease in this family), 47 had ataxia; there was autosomal dominant transmission. Clinical findings included lower bulbar palsies, hyperreflexia, ataxia, incoordination, scanning and explosive speech, and, in some, slow motor-nerve conduction velocities. There was cortical and cerebellar atrophy of pontine nuclei, inferior olives, and XII nuclei, and loss of Purkinje cells in the cerebellum. Seventy-three individuals of the III and IV generations were typed for HLA histocompatibility antigens. A maximum lod score of 1.97 was found at male recombination fraction 0.18 and female recombination fraction 0.36. When the lod score values reported in other studies were combined with the values in this family, the maximum lod score was found to be 4.681 at a recombination frequency of 0.22.

Address correspondence and reprint requests to Dr. Yunis, Division of Immunogenetics, Sidney Farber Cancer Institute, 44 Binney Street, Boston, MA 02115.

Accepted for publication June 19, 1979.

This work was supported by NIH Grants Nos. CA 19589, CA 20531, GM16697, MH26721, and MH31732 (Research Scientist Award to Dr. Elston).

The paper was read at the thirtieth meeting of the American Academy of Neurology, Los Angeles, CA, April 1978.

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