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For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Higgins et al. (1997) described a large multigenerational American family of British origin with autosomal dominant spinocerebellar ataxia. Affected individuals had adult onset of imbalance and ataxia, followed in some cases by ophthalmoplegia, dysarthria, pyramidal tract signs, weakness, extrapyramidal signs, and posterior column signs. Two individuals had parkinsonism, and a third presented with a phenotype resembling multiple sclerosis (MS; 126200), including demyelinating lesions on brain MRI. Brain MRI of 3 patients showed cerebellar atrophy. The phenotype was similar to that described for the Drew family of Walworth (SCA3; 109150).
Higgins, J. J., Pho, L. T., Ide, S. E., Nee, L. E., Polymeropoulos, M. H. Evidence for a new spinocerebellar ataxia locus. Mov. Disord. 12: 412-417, 1997. [PubMed: 9159738, related citations] [Full Text]
DO: 0111747;
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Higgins et al. (1997) described a large multigenerational American family of British origin with autosomal dominant spinocerebellar ataxia. Affected individuals had adult onset of imbalance and ataxia, followed in some cases by ophthalmoplegia, dysarthria, pyramidal tract signs, weakness, extrapyramidal signs, and posterior column signs. Two individuals had parkinsonism, and a third presented with a phenotype resembling multiple sclerosis (MS; 126200), including demyelinating lesions on brain MRI. Brain MRI of 3 patients showed cerebellar atrophy. The phenotype was similar to that described for the Drew family of Walworth (SCA3; 109150).
In an American family with complicated SCA, Higgins et al. (1997) excluded linkage to the SCA4 (600223), SCA5 (600224), and SCA7 (164500) loci. Direct mutation analysis did not detect CAG expansions in the ATXN1 (601556), ATXN2 (601517), or ATXN3 (607047) genes.
Higgins, J. J., Pho, L. T., Ide, S. E., Nee, L. E., Polymeropoulos, M. H. Evidence for a new spinocerebellar ataxia locus. Mov. Disord. 12: 412-417, 1997. [PubMed: 9159738] [Full Text: https://doi.org/10.1002/mds.870120322]
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