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MeSH Review

Spinocerebellar Ataxias

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Disease relevance of Spinocerebellar Ataxias


Psychiatry related information on Spinocerebellar Ataxias


High impact information on Spinocerebellar Ataxias


Chemical compound and disease context of Spinocerebellar Ataxias


Biological context of Spinocerebellar Ataxias


Anatomical context of Spinocerebellar Ataxias


Gene context of Spinocerebellar Ataxias


Analytical, diagnostic and therapeutic context of Spinocerebellar Ataxias


  1. Huntingtin aggregation and toxicity in Huntington's disease. Bates, G. Lancet (2003) [Pubmed]
  2. SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6. Izumi, Y., Maruyama, H., Oda, M., Morino, H., Okada, T., Ito, H., Sasaki, I., Tanaka, H., Komure, O., Udaka, F., Nakamura, S., Kawakami, H. Am. J. Hum. Genet. (2003) [Pubmed]
  3. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia. Lodi, R., Hart, P.E., Rajagopalan, B., Taylor, D.J., Crilley, J.G., Bradley, J.L., Blamire, A.M., Manners, D., Styles, P., Schapira, A.H., Cooper, J.M. Ann. Neurol. (2001) [Pubmed]
  4. SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Fujigasaki, H., Verma, I.C., Camuzat, A., Margolis, R.L., Zander, C., Lebre, A.S., Jamot, L., Saxena, R., Anand, I., Holmes, S.E., Ross, C.A., Dürr, A., Brice, A. Ann. Neurol. (2001) [Pubmed]
  5. Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein. Watanabe, M., Sugai, Y., Concannon, P., Koenig, M., Schmitt, M., Sato, M., Shizuka, M., Mizushima, K., Ikeda, Y., Tomidokoro, Y., Okamoto, K., Shoji, M. Ann. Neurol. (1998) [Pubmed]
  6. Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome? Schöls, L., Haan, J., Riess, O., Amoiridis, G., Przuntek, H. Neurology (1998) [Pubmed]
  7. Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy. Filla, A., De Michele, G., Cocozza, S., Patrignani, A., Volpe, G., Castaldo, I., Ruggiero, G., Bonavita, V., Masters, C., Casari, G., Bruni, A. Neurology (2002) [Pubmed]
  8. Transcriptional repression and cell death induced by nuclear aggregates of non-polyglutamine protein. Fu, L., Gao, Y.S., Sztul, E. Neurobiol. Dis. (2005) [Pubmed]
  9. Ataxia-deafness-retardation syndrome in three sisters. Koletzko, S., Koletzko, B., Lamprecht, A., Lenard, H.G. Neuropediatrics. (1987) [Pubmed]
  10. Executive dysfunction in spinocerebellar ataxia type 1. Bürk, K., Bösch, S., Globas, C., Zühlke, C., Daum, I., Klockgether, T., Dichgans, J. Eur. Neurol. (2001) [Pubmed]
  11. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Koob, M.D., Moseley, M.L., Schut, L.J., Benzow, K.A., Bird, T.D., Day, J.W., Ranum, L.P. Nat. Genet. (1999) [Pubmed]
  12. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Zhuchenko, O., Bailey, J., Bonnen, P., Ashizawa, T., Stockton, D.W., Amos, C., Dobyns, W.B., Subramony, S.H., Zoghbi, H.Y., Lee, C.C. Nat. Genet. (1997) [Pubmed]
  13. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J.M., Weber, C., Mandel, J.L., Cancel, G., Abbas, N., Dürr, A., Didierjean, O., Stevanin, G., Agid, Y., Brice, A. Nat. Genet. (1996) [Pubmed]
  14. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Trottier, Y., Lutz, Y., Stevanin, G., Imbert, G., Devys, D., Cancel, G., Saudou, F., Weber, C., David, G., Tora, L. Nature (1995) [Pubmed]
  15. SCAN1 mutant Tdp1 accumulates the enzyme--DNA intermediate and causes camptothecin hypersensitivity. Interthal, H., Chen, H.J., Kehl-Fie, T.E., Zotzmann, J., Leppard, J.B., Champoux, J.J. EMBO J. (2005) [Pubmed]
  16. Dopamine transporter positron emission tomography in spinocerebellar ataxias type 1, 2, 3, and 6. Wüllner, U., Reimold, M., Abele, M., Bürk, K., Minnerop, M., Dohmen, B.M., Machulla, H.J., Bares, R., Klockgether, T. Arch. Neurol. (2005) [Pubmed]
  17. Phospholipid-metabolizing enzymes in Alzheimer's disease: increased lysophospholipid acyltransferase activity and decreased phospholipase A2 activity. Ross, B.M., Moszczynska, A., Erlich, J., Kish, S.J. J. Neurochem. (1998) [Pubmed]
  18. Role of histidine interruption in mitigating the pathological effects of long polyglutamine stretches in SCA1: A molecular approach. Sen, S., Dash, D., Pasha, S., Brahmachari, S.K. Protein Sci. (2003) [Pubmed]
  19. Isolated vitamin E deficiency with demyelinating neuropathy. Puri, V., Chaudhry, N., Tatke, M., Prakash, V. Muscle Nerve (2005) [Pubmed]
  20. Brain levels of thiamine and its phosphate esters in Friedreich's ataxia and spinocerebellar ataxia type 1. Bettendorff, L., Mastrogiacomo, F., LaMarche, J., Dozić, S., Kish, S.J. Mov. Disord. (1996) [Pubmed]
  21. Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded. Keats, B.J., Pollack, M.S., McCall, A., Wilensky, M.A., Ward, L.J., Lu, M., Zoghbi, H.Y. Am. J. Hum. Genet. (1991) [Pubmed]
  22. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus. Kwiatkowski, T.J., Orr, H.T., Banfi, S., McCall, A.E., Jodice, C., Persichetti, F., Novelletto, A., LeBorgne-DeMarquoy, F., Duvick, L.A., Frontali, M. Am. J. Hum. Genet. (1993) [Pubmed]
  23. The intrinsically unstable life of DNA triplet repeats associated with human hereditary disorders. Bowater, R.P., Wells, R.D. Prog. Nucleic Acid Res. Mol. Biol. (2001) [Pubmed]
  24. Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics. Scheel, H., Tomiuk, S., Hofmann, K. Hum. Mol. Genet. (2003) [Pubmed]
  25. Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2. Velázquez-Pérez, L., Seifried, C., Santos-Falcón, N., Abele, M., Ziemann, U., Almaguer, L.E., Martínez-Góngora, E., Sánchez-Cruz, G., Canales, N., Pérez-González, R., Velázquez-Manresa, M., Viebahn, B., von Stuckrad-Barre, S., Fetter, M., Klockgether, T., Auburger, G. Ann. Neurol. (2004) [Pubmed]
  26. An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Lindblad, K., Savontaus, M.L., Stevanin, G., Holmberg, M., Digre, K., Zander, C., Ehrsson, H., David, G., Benomar, A., Nikoskelainen, E., Trottier, Y., Holmgren, G., Ptacek, L.J., Anttinen, A., Brice, A., Schalling, M. Genome Res. (1996) [Pubmed]
  27. Decreased parvalbumin immunoreactivity in surviving Purkinje cells of patients with spinocerebellar ataxia-1. Vig, P.J., Fratkin, J.D., Desaiah, D., Currier, R.D., Subramony, S.H. Neurology (1996) [Pubmed]
  28. Spinocerebellar ataxia associated with localized amyotrophy of the hands, sensorineural deafness and spastic paraparesis in two brothers. Gemignani, F. J. Neurogenet. (1986) [Pubmed]
  29. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Flanigan, K., Gardner, K., Alderson, K., Galster, B., Otterud, B., Leppert, M.F., Kaplan, C., Ptácek, L.J. Am. J. Hum. Genet. (1996) [Pubmed]
  30. Cloning and characterization of a family of proteins associated with Mpl. Meunier, C., Bordereaux, D., Porteu, F., Gisselbrecht, S., Chrétien, S., Courtois, G. J. Biol. Chem. (2002) [Pubmed]
  31. The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. Lorenzetti, D., Bohlega, S., Zoghbi, H.Y. Neurology (1997) [Pubmed]
  32. Spinocerebellar ataxia (SCA1) in two large Italian kindreds: evidence in favour of a locus position distal to GLO1 and the HLA cluster. Frontali, M., Iodice, C., Lulli, P., Spadaro, M., Cappellacci, S., Giunti, P., Malaspina, P., Morellini, M., Morocutti, C., Novelletto, A. Ann. Hum. Genet. (1991) [Pubmed]
  33. The unstable trinucleotide repeat story of major psychosis. Vincent, J.B., Paterson, A.D., Strong, E., Petronis, A., Kennedy, J.L. Am. J. Med. Genet. (2000) [Pubmed]
  34. Friedreich's ataxia: iron chelators that target the mitochondrion as a therapeutic strategy? Richardson, D.R. Expert opinion on investigational drugs. (2003) [Pubmed]
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