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NEUROLOGY 1994;44:1441
© 1994 American Academy of Neurology

Autosomal dominant cerebellar ataxia with retinal degeneration

Clinical, neuropathologic, and genetic analysis of a large kindred

L. G. GOUW, BA, K. B. Digre, MD, C. P. Harris, MD, J. H. Haines, MD and L. J. Ptacek, MD

Departments of Human Genetics (L. Gouw and Dr. Ptacek), Neurology (Drs. Digre and Ptacek), Pathology (Dr. Harris), and Ophthalmology (Dr. Digre), University of Utah Medical Center, Salt Lake City, UT, and the Oregon Eye Associates (Dr. Haines), Eugene, OR.

The autosomal dominant cerebellar ataxias (ADCA) comprise a heterogeneous group of neurologic disorders characterized by degeneration of the cerebellum, spinal cord, and brainstem. Genetic analysis has revealed two loci, SCA1 on chromosome 6p, and SCA2 on chromosome 12q, responsible for some ADCA. We present a four-generation kindred of 42 individuals, 12 of whom were clinically affected with ADCA and an associated cone dystrophy. Early loss of color discrimination with retinal and macular signs is followed by gradual progression of cerebellar dysfunction and development of pyramidal signs. Pathology shows degeneration of cerebellum, basis pontis, inferior olive, and retinal ganglion cells. For genetic analysis, we used polymorphic markers D6S89 and D12S79; linkage analysis gave negative results, excluding linkage to both SCA1 and SCA2. The data strongly support genetic heterogeneity consistent with the unique clinicopathologic features of the form of ADCA displayed in this large family.

Address correspondence and reprint requests to Dr. K.B. Digre, Department of Neurology, University of Utah Medical Center, Salt Lake City, UT 84132.

Supported by NIH grant 1 K11 HD00940 (to L.P.), Public Health Service research grant no. M01-RR00064 from the National Center for Research Resources, the Howard Hughes Medical Institute, the Utah Technology Access Center (NIH grant no. 8 R01 HG00367 from the Center for Human Genome Research), by an unrestricted grant from Research to Prevent Blindness, Inc., and by an American Heart Association Medical Student Research Fellowship (to L.G.).

Received August 16, 1993. Accepted in final form January 27, 1994.






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