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| Creator | Title | Description | Subject | Date | ||
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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 |
| 2 |
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Gouw, Launce G.; McKenna, Catherine K.; Digre, Kathleen B.; Placek, Louis J. | Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. | The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract that is expanded in SCA7 patients. We have determined expansions in 73 individuals from 17 SCA7 kindreds and compared them with repeat lengths of 180 unaffected individuals. Subjects with abnormal expansions co... | Genetics; Biosynthesis; SCA7 Gene | 1998-03-07 |
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