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NEUROLOGY 1992;42:344
© 1992 American Academy of Neurology

Autosomal dominant spinocerebellar ataxia

Locus heterogeneity in a Nebraska kindred

L.P.W. Ranum, PhD, S. S. Rich, PhD, M. A. Nance, MD, L. A. Duvick, BS, J. F. Aita, MD, H. T. Orr, PhD, S. Anton-Johnson, RPh and L. J. Schut, MD

Department of Laboratory Medicine and Pathology, and Institute of Human Genetics (Drs. Ranum, Rich, and Nance, L.A. Duvick, and Dr. Orr), University of Minnesota, Minneapolis, MN; Nebraska Methodist Hospital (Dr. Aita), Omaha, NE; and the VA Medical Center (S. Anton-Johnson and Dr. Schut), Minneapolis, MN.

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.

Address correspondence and reprint requests to Dr. L.P.W. Ranum, Institute of Human Genetics, University of Minnesota, 420 Delaware Street SE, Box 206 UMHC, Minneapolis, MN 55455.

Supported by grants from the Muscular Dystrophy Association (to H.T.O. and L.P.W.R.), the National Ataxia Foundation (to H.T.O.), and by NIH grant RR01632 (to S.S.R.).

Received May 22, 1991. Accepted for publication in final form July 23, 1991.






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