An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) (original) (raw)

• Subramony, S.H. & Currier, R.D. The classification of familial ataxias. in Handbook of Clinical Neurology (eds Vinken, P.J., Bruyn, G.W. & Klawans, H.L.) 271–284 (Elsevier Science Publishing Company, New York, 1991).
  Google Scholar
• Harding, A.E. The clinical features and classification of the late onset autosomal dominant cerebellar ataxia: a study of 11 families, including descendants of 'The Drew Family of Walworth'. Brain 105, 1–28 (1982).
  Article CAS PubMed Google Scholar
• Zoghbi, H.Y. The spinocerebellar degenerations. Curr. Neurol. 11, 121–144 (1991).
  Google Scholar
• Brice, A. Unstable mutations and neurodegenerative disorders. J. Neurol. 245, 505–510 (1998).
  Article CAS PubMed Google Scholar
• Klockgether, T. & Evert, B. Genes involved in hereditary ataxias. Trends Neurosci. 21, 413–418 (1998).
  Article CAS PubMed Google Scholar
• Jansen, G. et al. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nature Genet. 13, 316–324 (1996).
  Article CAS PubMed Google Scholar
• Reddy, S. et al. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nature Genet. 13, 325–335 (1996).
  Article CAS PubMed Google Scholar
• Groenen, P. & Wieringa, B. Expanding complexity in myotonic dystrophy. Bioessays 20, 901–912 (1998).
  Article CAS PubMed Google Scholar
• Hoffmann-Radvanyi, H. et al. Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele. Hum. Mol. Genet. 2, 1263–1266 (1993).
  Article Google Scholar
• Krahe, R. et al. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics 28, 1–14 (1995).
  Article CAS PubMed Google Scholar
• Taneja, K.L., McCurrach, M., Schalling, M., Housman, D. & Singer, R.H. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J. Cell Biol. 128, 995–1002 (1995).
  Article CAS PubMed Google Scholar
• Davis, B.M., McCurrach, M.E., Taneja, K.L., Singer, R.H. & Housman, D.E. Expansion of a CUG trinucleotide repeat in the 3´ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc. Natl Acad. Sci. USA 94, 7388–7393 (1997).
  Article CAS PubMed PubMed Central Google Scholar
• Timchenko, L.T. et al. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res. 24, 4407–4414 (1996).
  Article CAS PubMed PubMed Central Google Scholar
• Roberts, R. et al. Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. Proc. Natl Acad. Sci. USA 94, 13221–13226 (1997).
  Article CAS PubMed PubMed Central Google Scholar
• Philips, A.V., Timchenko, L.T. & Cooper, T.A. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280, 737–741 (1998).
  Article CAS PubMed Google Scholar
• Schalling, M., Hudson, T., Buetow, K. & Housman, D. Direct detection of novel expanded trinucleotide repeats in the human genome. Nature Genet. 4, 135–139 (1993).
  Article CAS PubMed Google Scholar
• Koob, M.D. et al. Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Nature Genet. 18, 72–75 (1998).
  Article CAS PubMed Google Scholar
• Moseley, M.L. et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 51, 1666–1671 (1998).
  Article CAS PubMed Google Scholar
• Chung, M.-y. et al. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet. 5, 254–258 (1993).
  Article CAS PubMed Google Scholar
• Cancel, G. et al. Molecular and clinical correlations in spinocerebellar ataxia 2×a study of 32 families. Hum. Mol. Genet. 6, 709–715 (1997).
  Article CAS PubMed Google Scholar
• Maruyama, H. et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum. Mol. Genet. 4, 807–812 (1995).
  Article CAS PubMed Google Scholar
• Maciel, P. et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am. J. Hum. Genet. 57, 54–61 (1995).
  CAS PubMed PubMed Central Google Scholar
• Zhuchenko, O. et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the ×-1A-voltage-dependent calcium channel. Nature Genet. 15, 62–69 (1997).
  Article CAS PubMed Google Scholar
• Jodice, C. et al. Episodic ataxia type 2 (EA2) and spinocerebellar atxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum. Mol. Genet. 6, 1973–1978 (1997).
  Article CAS PubMed Google Scholar
• David, G. et al. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum. Mol. Genet. 7, 165–170 (1998).
  Article CAS PubMed Google Scholar
• Tsilfidis, C., MacKenzie, A.E., Mettler, G., Barcelo, J. & Korneluk, R.G. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nature Genet. 1, 192–195 (1992).
  Article CAS PubMed Google Scholar
• Vanhee-Brossollet, C. & Vaquero, C. Do natural antisense transcripts make sense in eukaryotes? Gene 211, 1–9 (1998).
  Article CAS PubMed Google Scholar
• Nellen, W. & Lichtenstein, C. What makes an mRNA anti-sense-itive? Trends Biochem. Sci. 18, 419–423 (1993).
  Article CAS PubMed Google Scholar
• Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. Natl Acad. Sci. USA 81, 3443–3446 (1984).
  Article CAS PubMed PubMed Central Google Scholar