A family with hereditary ataxia
Tan, C.T.
Medical Journal of Malaysia 35(2): 134-138
1980
ISSN/ISBN: 0300-5283 PMID: 7266406 Document Number: 158215
In a previously unreported family with olivopontocerebellar atrophy, the kindred contained over 600 individuals in 5 generations. Of 83 offspring of affected individuals who are over 38.8 yr 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. Individuals (73) of the III and IV generations were typed for HLA. A maximum lod score [the logarithm (to base 10) of the ratio of the probability of obtaining a pedigree if there is no linkage] 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 4.681 at a recombination frequency of 0.22.