Journal of the Neurological Sciences
Volume 238, Issue 1 , Pages 41-45 , 15 November 2005

Late-onset pure cerebellar ataxia: Differentiating those with and without identifiable mutations

  • Kevin A. Kerber

      Affiliations

    • Department of Neurology, UCLA School of Medicine, Los Angeles, CA, United States
    • ,
  • Joanna C. Jen

      Affiliations

    • Department of Neurology, UCLA School of Medicine, Los Angeles, CA, United States
    • ,
  • Susan Perlman

      Affiliations

    • Department of Neurology, UCLA School of Medicine, Los Angeles, CA, United States
    • ,
  • Robert W. Baloh

      Affiliations

    • Department of Neurology, UCLA School of Medicine, Los Angeles, CA, United States
    • Department of Surgery (Head and Neck), UCLA School of Medicine, Los Angeles, CA, United States
    • Corresponding Author InformationCorresponding author. David Geffen School of Medicine at UCLA, Reed Neurological Research Center, 710 Westwood Plaza, Box 951769, Los Angeles, CA 90095-1769, United States. Tel.: +1 310 825 5910; fax: +1 310 206 1513.

Received 28 April 2005 ,Accepted 9 June 2005.

References 

  1. Moseley ML, Benzow KA, Schut LJ, Bird TD, Gomez CM, Barkhaus PE, et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology. 1998;51:1666–1671
  2. Tang B, Liu C, Shen L, Dai H, Pan Q, Jing L, et al. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch Neurol. 2000;57:540–544
  3. Saleem Q, Choudhry S, Mukerji M, Bashyam L, Padma MV, Chakravarthy A, et al. Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. Hum Genet. 2000;106:179–187
  4. Silveira I, Miranda C, Guimaraes L, Moreira MC, Alonso I, Mendonca P, et al. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol. 2002;59:623–629
  5. van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, Scheffer H, Brunt ER, Ippel PF, et al. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology. 2002;58:702–708
  6. Bryer A, Krause A, Bill P, Davids V, Bryant D, Butler J, et al. The hereditary adult-onset ataxias in South Africa. J Neurol Sci. 2003;216:47–54
  7. Schols L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004;3:291–304
  8. Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, et al. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol. 2004;61:727–733
  9. Abele M, Burk K, Schols L, Schwartz S, Besenthal I, Dichgans J, et al. The aetiology of sporadic adult-onset ataxia. Brain. 2002;125(Pt 5):961–968
  10. Pujana MA, Corral J, Gratacos M, Combarros O, Berciano J, Genis D, et al. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group. Hum Genet. 1999;104(6):516–522
  11. Schols L, Szymanski S, Peters S, Przuntek H, Epplen J, Hardt C, et al. Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum Genet. 2000;107:132–137
  12. Zuhlke C, Dalski A, Hellenbroich Y, Bubel S, Schwinger E, Burk K. Spinocerebellar ataxia type 1 (SCA1): phenotype–genotype correlation studies in intermediate alleles. Eur J Hum Genet. 2002;10(3):204–209
  13. Fernandez M, McClain ME, Martinez RA, Snow K, Lipe H, Ravits J, et al. Late-onset SCA2: 33 CAG repeats are sufficient to cause disease. Neurology. 2000;55(4):569–572
  14. Ogawa K, Suzuki Y, Oishi M, Mizutani T, Nakayama T. A case of Machado–Joseph disease presenting pure cerebellar ataxia. Rinsho Shinkeigaku. 2001;41(8):512–514
  15. Schols L, Bauer I, Zuhlke C, Schulte T, Kolmel C, Burk K, et al. Do CTG expansions at the SCA8 locus cause ataxia?. Ann Neurol. 2003;54(1):110–115
  16. Ikeda Y, Shizuka M, Watanabe M, Okamoto K, Shoji M. Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan. Neurology. 2000;54(4):950–955
  17. Yamashita I, Sasaki H, Yabe I, Fukazawa T, Nogoshi S, Komeichi K, et al. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann Neurol. 2000;48(2):156–163
  18. Brkanac Z, Bylenok L, Fernandez M, Matsushita M, Lipe H, Wolff J, et al. A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. Arch Neurol. 2002;59(8):1291–1295
  19. Macpherson J, Waghorn A, Hammans S, Jacobs P. Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia. (Letter) Hum Genet. 2003;112:619–620
  20. Harding AE. “Idiopathic” late onset cerebellar ataxia. A clinical and genetic study of 36 cases. J Neurol Sci. 1981;51(2):259–271
  21. Yue Q, Jen JC, Nelson SF, Baloh RW. Progressive ataxia due to a missense mutation in a calcium-channel gene. Am J Hum Genet. 1997;61(5):1078–1087
  22. Jen J, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology. 2004;62(1):17–22
  23. Baloh RW, Honrubia V. Clinical neurophysiology of the vestibular system. 3rd ed.. New York: Oxford University Press; 2001;
  24. Moschner C, Baloh RW. Age-related changes in visual tracking. J Gerontol. 1994;49:M235–M238
  25. Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993 (Jul);4(3):221–226
  26. Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 1996;14:269–276
  27. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado–Joseph disease at chromosome 14q32.1. Nat Genet. 1994 (Nov);8(3):221–228
  28. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 (Jan);15(1):62–69
  29. Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet. 1999;21:379–384
  30. Brown WT, Houck GE, Jeziorowska A, Levinson FN, Ding X, Dobkin C, et al. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA. 1993;270:1569–1575
  31. Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet. 2003;72(4):839–849
  32. Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, et al. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet. 2004;75(1):3–16
  33. Muzaimi MB, Thomas J, Palmer-Smith S, Rosser L, Harper PS, Wiles CM, et al. Population based study of late onset cerebellar ataxia in south east Wales. J Neurol Neurosurg Psychiatry. 2004;75(8):1129–1134
  34. Gilman S, Little R, Johanns J, Heumann M, Kluin KJ, Junck L, et al. Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy. Neurology. 2000;55(4):527–532
  35. Burn DJ, Lees AJ. Progressive supranuclear palsy: where are we now?. Lancet Neurol. 2002;1(6):359–369
  36. Terao Y, Sakai K, Kato S, Tanabe H, Ishida K, Tsukamoto T. Antineuronal antibody in Sjogren's syndrome masquerading as paraneoplastic cerebellar degeneration. Lancet. 1994;343(8900):790
  37. Shimomura T, Kuno N, Takenaka T, Maeda M, Takahashi K. Purkinje cell antibody in lupus ataxia. Lancet. 1993;342(8867):375–376
  38. Honnorat J, Saiz A, Giometto B, Vincent A, Brieva L, de Andres C. Cerebellar ataxia with anti-glutamic acid decarboxylase antibodies: study of 14 patients. Arch Neurol. 2001 (Feb);58(2):225–230
  39. Buttner N, Geschwind D, Jen JC, Perlman S, Pulst SM, Baloh RW. Oculomotor phenotypes in autosomal dominant ataxias. Arch Neurol. 1998;55(10):1353–1357
  40. Burk K, Fetter M, Abele M, Laccone F, Brice A, Dichgans J, et al. Autosomal dominant cerebellar ataxia type 1: oculomotor abnormalities in families with SCA1, SCA2 and SCA3. J Neurol. 1999;246:789–797
  41. Migliaccio AA, Halmagyi GM, McGarvie LA, Cremer PD. Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign. Brain. 2004;127(Pt 2):280–293
  42. Baloh RW, Jacobson KM, Socotch TM. The effect of aging on visual-vestibuloocular responses. Exp Brain Res. 1993;95(3):509–516

PII: S0022-510X(05)00224-8

doi: 10.1016/j.jns.2005.06.006

Journal of the Neurological Sciences
Volume 238, Issue 1 , Pages 41-45 , 15 November 2005

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