Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2

Clinical Neurophysiology

Volumn 120, Issue 3, 2009, Pages 632-635

  Velazquez Perez L ^a   Seifried, C ^b   Abele, M ^c   Wirjatijasa, F ^b   Rodriguez Labrada R ^a   Santos Falcon N ^a   Sanchez Cruz G ^a   Almaguer Mederos, L ^a   Tejeda, R ^a   Canales Ochoa, N ^a   Fetter, M ^d   Ziemann, U ^b   Klockgether, T ^c   Medrano Montero, J ^a   Rodriguez Diaz J ^a   Laffita Mesa, J M ^a   Auburger, G ^b  

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

^b UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^c UNIVERSITY HOSPITAL BONN   (Germany)

^d Klinikum Karlsbad Langensteinbach   (Germany)

Author keywords

Olivo ponto cerebellar atrophy; Polyglutamine expansion; Pontine degeneration; Presymptomatic carrier; Saccadic slowing; SCA2; Spinocerebellar ataxia type 2

Indexed keywords

ADULT; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; ELECTRONYSTAGMOGRAPHY; FEMALE; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT; SPINOCEREBELLAR DEGENERATION;

ADOLESCENT; ADULT; AGED; CEREBELLUM; DISEASE PROGRESSION; EARLY DIAGNOSIS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; NEURAL PATHWAYS; OCULAR MOTILITY DISORDERS; OCULOMOTOR MUSCLES; PREDICTIVE VALUE OF TESTS; PROGNOSIS; SACCADES; SPINOCEREBELLAR ATAXIAS; YOUNG ADULT;

EID: 62949188229     PISSN: 13882457     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinph.2008.12.040     Document Type: Article

References (27)

1. Cancel G., Durr A., Didierjean O., Imbert G., Burk K., Lezin A., et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 6 (1997) 709-715
2. Estrada R., Galarraga J., Orozco G., Nodarse A., and Auburger G. Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies. Acta Neuropathol 97 (1999) 306-310
3. Filla A., De Michele G., Santoro L., Calabrese O., Castaldo I., Giuffrida S., et al. Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families. J Neurol 246 (1999) 467-471
4. Imbert G., Saudou F., Yvert G., Devys D., Trottier Y., Garnier J.M., et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14 (1996) 285-291
5. Lastres-Becker I., Rüb U., and Auburger G. Spinocerebellar ataxia 2 (SCA2). Cerebellum 7 (2008) 115-124
6. Lu C.S., Wu Chou Y.H., Kuo P.C., Chang H.C., and Weng Y.H. The parkinsonian phenotype of spinocerebellar ataxia type 2. Arch Neurol 61 (2004) 35-38
7. Nonhoff U., Ralser M., Welzel F., Piccini I., Balzereit D., Yaspo M.L., et al. Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules. Mol Biol Cell 18 (2007) 1385-1396
8. Nonis D., Schmidt M.H., van de Loo S., Eich F., Dikic I., Nowock J., et al. Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. Cell Signal 20 (2008) 1725-1739
9. Orozco Diaz G., Nodarse Fleites A., Cordoves Sagaz R., and Auburger G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 40 (1990) 1369-1375
10. Orozco G., Estrada R., Perry T.L., Arana J., Fernandez R., Gonzalez-Quevedo A., et al. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings. J Neurol Sci 93 (1989) 37-50
11. Orr H.T., and Zoghbi H.Y. Trinucleotide repeat disorders. Annu Rev Neurosci 30 (2007) 575-621
12. Paneque H.M., Prieto A.L., Reynaldo R.R., Cruz M.T., Santos F.N., Almaguer M.L., et al. Psychological aspects of presymptomatic diagnosis of spinocerebellar ataxia type 2 in Cuba. Community Genet 10 (2007) 132-139
13. Paneque M., Lemos C., Escalona K., Prieto L., Reynaldo R., Velazquez M., et al. Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba. J Genet Couns 16 (2007) 469-479
14. Pulst S.M., Nechiporuk A., Nechiporuk T., Gispert S., Chen X.N., Lopes-Cendes I., et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14 (1996) 269-276
15. Pulst S.M., Santos N., Wang D., Yang H., Huynh D., Velazquez L., et al. Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset. Brain 128 (2005) 2297-2303
16. 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 14 (1996) 277-284
17. Santos N., Aguiar J., Fernández J., Vázquez M., Auburger G., Gispert S., et al. Molecular diagnosis of a sample of the Cuban population with spinocerebellar ataxia type 2. Biotecnol Aplicada 16 (1999) 219-221
18. Satterfield T.F., and Pallanck L.J. Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes. Hum Mol Genet 15 (2006) 2523-2532
19. Schik G., Mohr S., and Hofferberth B. Effect of aging on saccadic eye movements to visual and auditory targets. Int Tinnitus J 6 (2000) 154-159
20. Schmitz-Hubsch T., du Montcel S.T., 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 66 (2006) 1717-1720
21. Schols L., Gispert S., Vorgerd M., Menezes Vieira-Saecker A.M., Blanke P., Auburger G., et al. Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds. Arch Neurol 54 (1997) 1073-1080
22. Seifried C., Velazquez-Perez L., Santos-Falcon N., Abele M., Ziemann U., Almaguer L.E., et al. Saccade velocity as a surrogate disease marker in spinocerebellar ataxia type 2. Ann NY Acad Sci 1039 (2005) 524-527
23. Trouillas P., Takayanagi T., Hallett M., Currier R.D., Subramony S.H., Wessel K., et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neurophiarmacology Committee of the World Federation of Neurology. J Neurol Sci 145 (1997) 205-211
24. Velazquez-Perez L., Garcia R., Santos F.N., Paneque H.M., Medina H.E., and Hechavarria P.R. Hereditary ataxias in Cuba. Historical, epidemiological, clinical, electrophysiological and quantitative neurological features. Rev Neurol 32 (2001) 71-76
25. Velazquez-Perez L., Seifried C., Santos-Falcon N., Abele M., Ziemann U., Almaguer L.E., et al. Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2. Ann Neurol 56 (2004) 444-447
26. Velazquez Perez L., Sanchez Cruz G., Canales Ochoa N., Rodriguez Labrada R., Rodriguez Diaz J., Almaguer Mederos L., et al. Electrophysiological features in patients and presymptomatic relatives with spinocerebellar ataxia type 2. J Neurol Sci 263 (2007) 158-164
27. Wadia N., Pang J., Desai J., Mankodi A., Desai M., and Chamberlain S. A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis. Brain 121 Pt. 12 (1998) 2341-2355