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Digre, Kathleen B.; Gouw, Launce G.; Harris, Catherine P.; Haines, John H.; Ptacek, L.J. | Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. | 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. W... | Retinal Degeneration; Cerebellar Ataxia; Genetic Analysis | 1994-08 |
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