Comprehensive characterization of spinocerebellar ataxia type 2 in Cuba and its application in intervention projects;Caracterización integral de la ataxia espinocerebelosa 2 en cuba y su aplicación en proyectos de intervención

Revista Cubana de Salud Publica

Volumn 37, Issue 3, 2011, Pages 230-244

  Pérez, Luis Velázquez ^a   Labrada, Roberto Rodríguez ^a   Cruz, Gilberto Sánchez ^a   Mesa, José M Laffita ^a   Mederos, Luis Almaguer ^a   Rodríguez, Raúl Aguilera ^a   Montero, Jacqueline Medrano ^a   Gotay, Dennis Almaguer ^a   Mariño, Tania Cruz ^a   Zaldívar, Yanetza González ^a   Almarales, Dany Coello ^a   Ochoa, Nalia Canales ^a   Mojena, Yaimeé Vázquez ^a   Díaz, Julio Cesar Rodríguez ^a  

^a Centro para la Investigacion y Rehabilitacion de las Ataxias Hereditarias Cuba   (Cuba)

Author keywords

Center for research and rehabilitation of hereditary ataxias (CIRAH); Cuban ataxia; SCA2; Spinocerebelar ataxia type 2

Indexed keywords

EID: 80051734116     PISSN: 08643466     EISSN: 15613127     Source Type: Journal    
DOI: 10.1590/s0864-34662011000300006     Document Type: Article

References (37)

1. Velázquez L. Ataxia Espinocerebelosa tipo 2. Principales aspectos neurofisiológicos en el diagnóstico, pronóstico y evolución de la enfermedad. Holguín: Ediciones Holguín; 2008.
2. Palau F, Espinos C. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis. 2006;17:1-47
3. Matilla Dueñas A, Sánchez I, Corral Juan M, Dávalos A, Álvarez R, Latorre P. Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias. Cerebellum. 2010;9(2):148-166.
4. Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010;9:88594.
5. Vallés L, Estrada GL, Bastecherrea SL. Algunas formas de heredoataxia en una región de Cuba. Rev Cubana Neurol. 1978; 27:163-176.
6. Orozco DG, Nodarse FA, Cordovés R, Aurburger G. Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology. 1990; 40(90):1369-1375.
7. VelázquezPérez L, Santos FN, García R, Paneque HM, Hechavarría PR. Epidemiología de la Ataxia Cubana. Rev Neurol. 2001;32 (7): 606-611.
8. Velázquez Pérez L, Cruz GS, Santos Falcón N, Almaguer LE, Escalona K, Rodríguez R. Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin. Neurosci Lett. 2009a;454(2):157-160.
9. Sánchez Cruz G, Velázquez Pérez L, Gómez Peña L, Martínez Góngora E, Castellano Sánchez G, Santos Falcón N. Manifestaciones disautonómicas en pacientes con ataxia espinocerebelosa tipo 2 cubana. Rev Neurol. 2001;33(5):428-433.
10. Julio MB, Gilberto SC, Andres MG, Mario EB, Luis VP. Heart rate variability in type 2 spinocerebellar ataxia. Acta Neurol Scand. 2010. doi: 10.1111 D j.1600-0404.2009.01320.
11. Burk K, Globas C, Bosch S, Graber S, Abele M, Brice A, et al. Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3. J Neurol. 2003;250:207-211.
12. Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet. 1993;4(3):295-299.
13. Hernandez A, Magarino C, Gispert S, Santos N, Lunkes A, Orozco G, et al. Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1. Genomics. 1995;25(2):433-435.
14. Pulst MS, Nechiporuk A, Nechiporuk T. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet 1996; 14: 269-276.
15. Huynh DP, Del Bigio MR, Ho DH, Pulst SM. Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2. Ann Neurol. 1999;45:232-241.
16. Sahba S, Nechiporuk A, Figueroa KP, Nechiporuk T, Pulst SM. Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1. Genomics. 1998;47: 359-364.
17. Pulst SM, Santos N, Wang D, Yang H, Huynh D. Spinocerebellar Ataxia type 2: PolyQ Repeat Variation in the CACNA1A Channel Modifies Age of Onset. Brain. 2005;128:2297-2303.
18. Simon DK, Zheng K, Velazquez L, Figueroa KP, Falcón N, Almaguer LE, et al. Mithochondrial complex I gene variant associated with early age of onset in SCA2. Arch Neurol. 2007;64:10424.
19. Aguiar J, Fernandez J, Aguilar A. Ubiquitous expression of human SCA2 gene under the regulation of the SCA2 self promoter cause specific Purkinje cell degeneration in transgenic mice. Neuroscien Let. 2006;392:202-206.
20. Almaguer L, Almaguer D, González Y, Martínez E, Valcárcel P. Capacidad antioxidante total en pacientes cubanos con ataxia Espinocerebelosa tipo 2. Rev Mex Neuroci. 2005;6(3):201-206.
21. Almaguer Mederos LE, Rodríguez Almira Y, Martínez Góngora E. Estudio preliminary de la prevalencia de anticuerpos antigliadina en pacientes cubanos con ataxia espinocerebelosa tipo 2. Rev Mex Neurocien. 2006;7(1):76-79.
22. González C, Sánchez G, González Quevedo A, Delgado R, Velázquez L, García Rodríguez JC, et al. Serum and cerebrospinal fluid levels of copper, iron and zinc in patiens with Ataxia type SCA-2 from the province of Holguin in Cuba. Therapeutic Basic Dialogues Clin Neuroscien. 2005;13(4):12-16.
23. Velázquez Pérez L, Sánchez Cruz G, Canales Ochoa N, Rodríguez Labrada R, Rodríguez Díaz J, Almaguer Mederos L, et al. Electrophysiological features in patients and presymptomatic r relatives with Spinocerebellar Ataxia type 2. J Neurol Sci. 2007; 263:158-164.
24. Velazquez Pérez L, Rodriguez Labrada R, Canales Ochoa N, Sanchez Cruz G, Fernandez Ruiz J, Montero JM, et al. Progression markers of Spinocerebellar ataxia 2. A twenty years neurophysiological follow up study. J Neurol Sci. 2010;290:22-26.
25. Velazquez Pérez L, Seifried C, Santos Falcón N, Abele M, Ziemann U, Almaguer LE, et al. Saccadic velocity is controlled by polyglutamine size in spinocerebellar ataxia 2. Ann Neurol. 2004;56(3):444-447.
26. Velázquez Pérez L, Seifried C, Abele M, Wirjatijasa F, Rodríguez Labrada R, Santos Falcón N, et al. Saccadic velocity is reduced in presymptomatic spinocerebellar ataxia type 2. Clin Neurophysiol. 2009;120(3):632-635.
27. Rodríguez Labrada R, Velázquez Pérez L, Seigfried C, Canales Ochoa N, Auburger G, Medrano Montero J, et al. Saccadic latency is prolonged in Spinocerebellar Ataxia type 2 and correlates with the frontal-executive dysfunctions. J Neurol Sci. 2011. doi: 10.1016/j.jns.2011.03.033.
28. Velázquez Pérez L, Voss U, Rodríguez Labrada R, Auburger G, Canales Ochoa N, Sánchez Cruz G, et al. Sleep disorders in Spinocerebellar Ataxia Type 2 Patients. Neurodeg Dis. 2011 doi: 10.1159/000324374.
29. Rodriguez Labrada R, Velazquez Pérez L, Canales Ochoa N, Galicia Polo L, Haro Valencia R, Sánchez Cruz G, et al. Subtle REM Sleep Abnormalities in Presymptomatic Spinocerebellar Ataxia Type 2 Gene Carriers. Mov Disord. 2011;26:347-350.
30. Nandagopal R, Moorthy SG. Dramatic levodopa responsiveness of dystonia in a sporadic case of spinocerebellar ataxia type 3. Postgrad Med J. 2004;80:3635.
31. Furtado S, Farrer M, Tsuboi Y. SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic and PET findings. Neurology. 2002;59:16257.
32. Kanai K, Kuwabara S, Arai K, Sung JY, Ogawara K, Hattori T. Muscle cramp in Machado-Joseph disease: altered motor axonal excitability properties and mexiletine treatment. Brain. 2003; 126:96573.
33. Kottke FJ, Stillwell GK, Lehmann Krusen JF. El ejercicio terapéutico para mantener la movilidad. En: Krusen, editor Medicina Física y Rehabilitación. Buenos Aires: Editora Médica Panamericana; 1990. p. 431
34. Pérez Ávila I, Fernández Vieitez JA, MartínezGóngora E, Ochoa Mastrapa R, Velázquez Manresa MG. Efectos de un programa de ejercicios físicos sobre variables neurológicas cuantitativas en pacientes con ataxia espinocerebelosa tipo 2 en estadio leve. Rev Neurol. 2004;39:907-910.
35. Rodríguez Díaz JC, Velázquez Pérez L, Sánchez Cruz G, Almaguer Gotay D, Rodríguez Labrada R, Aguilera Rodríguez R, et al. Evaluation of Neurological Restoration in patients with Spinocerebellar Ataxia type 2. Plast Rest Neurol. 2008;7:13-18.
36. Paneque HM, Prieto AL, Reynaldo RR. Psychological aspects of presymptomatic diagnosis of Spinocerebellar Ataxia Type 2 in Cuba. Commun Genet. 2007;10:1329.
37. Milena Paneque M, Lemos C, Sousa A, Velazquez L, Fleming M, Sequeiros J. Role of the Disease in the Psychological Impact of Pre-Symptomatic Testing for SCA2 and FAP ATTRV30M: Experience with the Disease, Kinship and Gender of the Transmitting Parent. J Genet Counsel. 2009;18:48393.