Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis

Clinical Genetics

Volumn 78, Issue 2, 2010, Pages 169-174

  Almaguer Mederos, L E ^a   Falcon N S ^a   Almira, Y R ^a   Zaldivar, Y G ^a   Almarales, D C ^a   Gongora E M ^a   Herrera, MP ^a   Batallan K E ^a   Arminan R R ^a   Manresa, M V ^a   Cruz, G S ^a   Laffita Mesa, J ^a   Cyuz, T M ^a   Chang, V ^a   Auburger, G ^b   Gispert, S ^b   Perez L V ^a  

^a Center for Investigation and Rehabilitation of Hereditary Ataxias (CIRAH)   (Cuba)

^b GOETHE UNIVERSITY MEDICAL SCHOOL   (Germany)

Author keywords

Age at onset; Polyglutamine disorders; Spinocerebellar ataxia type 2; Survival analysis

Indexed keywords

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CAG REPEAT; CHILD; CUBA; ENVIRONMENTAL FACTOR; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PREDICTOR VARIABLE; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK FACTOR; SCHOOL CHILD; SPINOCEREBELLAR ATAXIA TYPE 2; SPINOCEREBELLAR DEGENERATION; SURVIVAL RATE;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHILD; CHILD, PRESCHOOL; CUBA; FEMALE; HUMANS; MALE; MIDDLE AGED; SPINOCEREBELLAR ATAXIAS; SURVIVAL ANALYSIS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 79955492378     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01358.x     Document Type: Article

References (23)

1. Lastres-Becker I, Rüb U, Auburger G. Spinocerebellar ataxia 2 (SCA2). Cerebellum 2008: 7: 115-124.
2. Santos N, Aguiar J, Ferńandez J et al. Diagńostico molecular de una muestra de la población cubana con ataxia espinocerebelosa tipo 2. Biotecn Apl 1999: 16 (4): 219-222.
3. Mao R, Aylsworth AS, Potter N et al. Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Am J Med Genet 2002: 110 (4): 338-345.
4. Almaguer-Mederos LE, Proenza CL, Rodríguez YA et al. Age-dependent risks in genetic counseling for spinocerebellar ataxia type 2. Clin Genet 2008: 74: 571-573.
5. Pulst SM, Santos N, Wang D et al. Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset. Brain 2005: 128: 2297-2303.
6. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. 2nd ed: New York: Cold Spring Harbor Laboratory Press, 1989.
7. Imbert G, Saudou F, Yvert G 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: 285-291.
8. SPSS Inc. SPSS for Windows (version 15.0) 2006.
9. van de Warrenburg BPC, Hendriks H, Dürr A et al. Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. Ann Neurol 2005: 57 (4): 505-512.
10. Ross CA. Polyglutamine pathogenesis: emergence of unifying mechanisms for Huntington's disease and related disorders. Neuron 2002: 35: 819-822.
11. Matilla AD, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain 2006: 129: 1357-1370.
12. Langbehn DR, Brinkman RR, Falush D, Paulsen JS, Hayden MR. A new model for prediction of the age of onset and penetrance or Huntington's disease based on CAG length. Clin Genet 2004: 65: 267-277.
13. Cancel G, Durr A, Didierjean O et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997: 6: 709-715.
14. Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997: 60: 842-850.
15. Rosenblatt A, Brinkman RR, Liang KY et al. Familial influence on age of onset among siblings with Huntington disease. Am J Med Genet (Neuropsychiatric Genetics) 2001: 105: 399-403.
16. Hayes S, Turecki G, Brisebois K et al. CAG repeat in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2). Hum Mol Genet 2000: 9 (12): 1753-1758.
17. Chattopadhyay B, Ghosh S, Gangopadhyay PK et al. Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India. Neurosci Lett 2003: 345 (2): 93-96.
18. Potter NT, Nance MA, and the Ataxia Molecular Diagnostic Testing Group. Genetic testing for ataxia in North America. Mol Diagn 2000: 5 (2): 91-99.
19. van de Warrenburg BPC, Sinke RJ, Verschuuren-Bemelmans CC et al. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology 2002: 58 (5): 702-708.
20. Pujana MA, Corral J, Gratacós M et al. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. Hum Genet 1999: 104: 516-522.
21. Basu P, Chattopadhyay B, Gangopadhaya PK et al. Analysis of CAG repeats in SCA1, SCA2, SCA3, and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, in nine ethnic populations of eastern India. Hum Genet 2000: 106: 597-604.
22. Tang B, Liu C, Shen 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 (4): 540-544.
23. Andresen JM, Gayán J, Cherny SS et al. Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds. J Med Genet 2007: 44: 44-50.