Journal of the Neurological Sciences
Volume 290, Issue 1 , Pages 22-26 , 15 March 2010

Progression markers of Spinocerebellar Ataxia 2. A twenty years neurophysiological follow up study

  • Luis Velázquez-Perez

      Affiliations

    • Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias, Holguín, Cuba
    • Corresponding Author InformationCorresponding author. Department of Clinical Neurophysiology, Centre for the Research and Rehabilitation of Hereditary Ataxias, Holguín, Cuba. Tel.: +53 24462296.
    • Address: Carretera Central Km 51/2 Vía Habana, Reparto Edecio Pérez, Holguin, Cuba, Postal Code: 80100.
    • ,
  • Roberto Rodríguez-Labrada

      Affiliations

    • Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias, Holguín, Cuba
    • ,
  • Nalia Canales-Ochoa

      Affiliations

    • Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias, Holguín, Cuba
    • ,
  • Gilberto Sanchez-Cruz

      Affiliations

    • Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias, Holguín, Cuba
    • ,
  • Juan Fernandez-Ruiz

      Affiliations

    • Laboratorio de Neuropsicología, Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autónoma de México, México
    • Facultad de Psicología, Universidad Veracruzana, México
    • ,
  • Jacqueline Medrano Montero

      Affiliations

    • Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias, Holguín, Cuba
    • ,
  • Raúl Aguilera-Rodríguez

      Affiliations

    • Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias, Holguín, Cuba
    • ,
  • Rosalinda Diaz

      Affiliations

    • Laboratorio de Neuropsicología, Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autónoma de México, México
    • ,
  • Luis E. Almaguer-Mederos

      Affiliations

    • Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias, Holguín, Cuba
    • ,
  • Agustín Palomino Truitz

      Affiliations

    • Hospital General Docente “Vladimir Ilich Lenin”, Holguin, Cuba

Received 4 November 2009 ,Revised 15 December 2009 ,Accepted 15 December 2009.

References 

  1. Lastres-Becker I, Rub U, Auburger G. Spinocerebellar ataxia 2 (SCA2). Cerebellum. 2008;7(2):115–124
  2. Orozco Diaz G, Nodarse Fleites A, Cordoves Sagaz R, Auburger G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology. 1990;40(9):1369–1375
  3. Velazquez-Perez L, Seifried C, Santos-Falcon N, Abele M, Ziemann U, Almaguer-Mederos LE, et al. Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2. Ann Neurol. 2004;56(3):444–447
  4. Velazquez Perez L, Sanchez Cruz G, Canales Ochoa N, Rodriguez Labrada R, Rodriguez Diaz J, Almaguer Mederos LE, et al. Electrophysiological features in patients and presymptomatic relatives with spinocerebellar ataxia type 2. J Neurol Sci. 2007;263(1-2):158–164
  5. Burk K, Globas C, Bosch S, Gräber S, Abele M, Brice A, et al. Cognitive deficits in spinocerebellar ataxia 2. Brain. 1999;122(Pt 4):769–777
  6. Boesch SM, Frauscher B, Brandauer E, Wenning GK, Hogl B, Poewe W. Disturbance of rapid eye movement sleep in spinocerebellar ataxia type 2. Mov Disord. 2006;21(10):1751–1754
  7. Tuin I, Voss U, Kang JS, Kessler K, Rüb U, Nolte D, et al. Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2). Neurology. 2006;67(11):1966–1972
  8. Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 1996;14(3):285–291
  9. 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(3):269–276
  10. Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet. 1996;14(3):277–284
  11. Estrada R, Galarraga J, Orozco G, Nodarse A, Auburger G. Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies. Acta Neuropathol. 1999;97(3):306–310
  12. Igarashi S, Tsuji S. Molecular analyses of intergenerational instability of CAG repeat in SCA2 gene. Nippon Rinsho. 1999;57(4):811–817
  13. 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
  14. Velazquez Perez L, Cruz GS, Santos Falcon N, Almaguer Mederos LE, Escalona Batallan K, Rodriguez Labrada R, et al. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin. Neurosci Lett. 2009;454(2):157–160
  15. Klockgether T, Ludtke R, Kramer B, Abele M, Bürk K, Schöls L, et al. The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain. 1998;121(Pt 4):589–600
  16. Le Pira F, Giuffrida S, Maci T, Marturano L, Tarantello R, Zappalà G, et al. Dissociation between motor and cognitive impairments in SCA2: Evidence from a follow-up study. J Neurol. 2007;254(10):1455–1456
  17. Underwood BR, Rubinsztein DC. Spinocerebellar ataxias caused by polyglutamine expansions: a review of therapeutic strategies. Cerebellum. 2008;7(2):215–221
  18. Abele M, Burk K, Andres F, Topka H, Laccone F, Bösch S, et al. Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3. Brain. 1997;120(Pt 12):2141–2148
  19. Schols L, Linnemann C, Globas C. Electrophysiology in spinocerebellar ataxias: spread of disease and characteristic findings. Cerebellum. 2008;7(2):198–203
  20. van de Warrenburg BP, Notermans NC, Schelhaas HJ, van Alfen N, Sinke RJ, Knoers N, et al. Peripheral nerve involvement in spinocerebellar ataxias. Arch Neurol. 2004;61(2):257–261
  21. Denny-Brown D, Dawson DM, Tyler HR. Handbook of neurological examination and case recording. 3rd ed. Cambridge, Mass.: Harvard University Press; 1982;
  22. Schmitz-Hubsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66(11):1717–1720
  23. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning : a laboratory manual. 2nd ed.. Cold Spring Harbor, N.Y.: Cold Spring Harbor Laboratory Press; 1989;
  24. Crum BA, Josephs KA. Varied electrophysiologic patterns in spinocerebellar ataxia type 2. Eur J Neurol. 2006;13(2):194–197
  25. Wadia N, Pang J, Desai J, Mankodi A, Desai M, Chamberlain S. A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis. Brain. 1998;121(Pt 12):2341–2355
  26. Velazquez Perez L, Almaguer Mederos L, Santos Falcon N, Hechavarria R, Sanchez Cruz G, Paneque HM. Spinocerebellar ataxia type 2 in Cuba. A study of the electrophysiological phenotype and its correlation with clinical and molecular variables. Rev Neurol. 2001;33(12):1129–1136
  27. Ragno M, Perretti AC, Castaldo I, Scarcella M, Acciarri S, Manganelli F, et al. Multimodal electrophysiologic follow-up study in 3 mutated but presymptomatic members of a spinocerebellar ataxia type 1 (SCA1) family. Neurol Sci. 2005;26(2):67–71

PII: S0022-510X(09)01004-1

doi: 10.1016/j.jns.2009.12.013

Journal of the Neurological Sciences
Volume 290, Issue 1 , Pages 22-26 , 15 March 2010

Article Tools

* Image Usage & Resolution