John W. Day, MD, PhD

Publication Details

  • Molecular genetics of spinocerebellar ataxia type 8 (SCA8) CYTOGENETIC AND GENOME RESEARCH Mosemiller, A. K., DALTON, J. C., Day, J. W., Ranum, L. P. 2003; 100 (1-4): 175-183

    Abstract:

    We previously reported that a transcribed but untranslated CTG expansion causes a novel form of ataxia, spinocerebellar ataxia type 8 (SCA8) (Koob et al., 1999). SCA8 was the first example of a dominant spinocerebellar ataxia that is not caused by the expansion of a CAG repeat translated into a polyglutamine tract. This slowly progressive form of ataxia is characterized by dramatic repeat instability and a high degree of reduced penetrance. The clinical and genetic features of the disease are discussed below.

    View details for DOI 10.1159/000072852

    View details for Web of Science ID 000186274900018

    View details for PubMedID 14526178

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