Analysis of CAG repeats in five SCA loci in Mexican population: Epidemiological evidence of a SCA7 founder effect

Clinical Genetics

Volumn 85, Issue 2, 2014, Pages 159-165

  Magana J J ^a   Tapia Guerrero, Y S ^a,b   Velazquez Perez L ^c   Cerecedo Zapata, C M ^a   Maldonado Rodriguez M ^a,d   Jano Ito, J S ^a   Leyva Garcia N ^a   Gonzalez Pina R ^e   Martinez Cruz E ^f   Hernandez Hernandez O ^a   Cisneros, B ^g  

^a Laboratory of Bioacoustics   (Mexico)

^b INSTITUTO POLITÉCNICO NACIONAL   (Mexico)

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

^d UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^e INR   (Mexico)

^f Rehabilitation Sub Direction Rehabilitation and Special Education Center of Veracruz (CREEVER DIF)   (Mexico)

^g DEPARTAMENTO DE FÍSICA   (Mexico)

Author keywords

Autosomal dominant cerebellar ataxia; CAG repeats; Founder effect; Mexican population; Multiplex PCR; SCA2; SCA7

Indexed keywords

ATAXIN 1; ATAXIN 3; ATAXIN 7; ATAXIN-7; NERVE PROTEIN;

ADULT; ARTICLE; CAG REPEAT; CASE FINDING; CAUCASIAN; CONTROLLED STUDY; DNA SEQUENCE; ETHNICITY; FOUNDER EFFECT; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENOTYPE; GEOGRAPHIC ORIGIN; HISPANIC; HUMAN; INDIAN; JAPANESE; MAJOR CLINICAL STUDY; MEXICO; MULTIPLEX POLYMERASE CHAIN REACTION; ONSET AGE; PEDIGREE ANALYSIS; PHENOTYPE; PILOT STUDY; POPULATION GENETIC STRUCTURE; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT; SCA1 GENE; SCA2 GENE; SCA3 GENE; SCA6 GENE; SCA7 GENE; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT; FLUORESCENCE; GENETICS; PREVALENCE; SPINOCEREBELLAR ATAXIAS;

FLUORESCENCE; FOUNDER EFFECT; GENE FREQUENCY; GENOTYPE; HUMANS; MEXICO; MULTIPLEX POLYMERASE CHAIN REACTION; NERVE TISSUE PROTEINS; PREVALENCE; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84892480136     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12114     Document Type: Article

References (30)

1. Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the Drew family of Walworth. Brain 1982: 105: 1-28.
2. Matilla-Dueñas A, Corral-Juan M, Volpini V, Sanchez I. The spinocerebellar ataxias: clinical aspects and molecular genetics. Adv Exp Med Biol 2012: 724: 351-374.
3. Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 2010: 9: 885-894.
4. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics and pathogenesis. Lancet Neurol 2004: 3 (5): 291-304.
5. Velázquez Pérez L, Rodríguez Labrada R, García Rodríguez JC et al. A comprehensive review of spinocerebellar ataxia type 2 in Cuba. Cerebellum 2011: 10 (2): 184-198.
6. Trott A, Jardim LB, Ludwig HT et al. Spinocerebellar ataxias in 114 families: clinical and molecular findings. Clin Genet 2006: 70 (2): 173-176.
7. Teive HA, Munhoz RP, Arrunda WO et al. Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families. Clinics 2012: 67 (5): 443-449.
8. Pedroso JL, Braga-Neto P, Radvany J, Barsottini OG. Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia. Arq Neuropsiquiatr 2012: 70 (8): 630-632.
9. Velázquez Pérez L, Cruz GS, Santos Falcón N et al. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguín. Neurosci Lett 2009: 454: 157-160.
10. Alonso E, Martínez-Ruano L, De Biase I et al. Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population. Mov Disord 2007: 22: 1050-1053.
11. Dorschner MO, Barden D, Stephens K. Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis. J Mol Diagn 2002: 4 (2): 108-113.
12. Moseley ML, Benzow KA, Shut LJ et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 families. Neurology 1998: 51: 1666-1671.
13. Benton CS, da Silva R, Rutledge SL, Bohlega S, Ashizawa T, Zoghbi HY. Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology 1998: 51: 1081-1086.
14. Jonasson J, Juvonen V, Sistonen P et al. Evidence for a common spinocerebellar ataxia. Eur J Hum Genet 2000: 8: 918-922.
15. Bryer A, Krause A, Bill P et al. The hereditary adult-onset ataxias in South Africa. J Neurol Sci 2003: 216 (1): 47-54.
16. David G, Dürr A, Stevanin G et al. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet 1998: 7 (2): 165-170.
17. Horton LC, Frosch MP, Vangel MG, Weigel-Difranco C, Berson EL, Schmahmann JD. Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations and neuropathology. Cerebellum 2012: DOI. 10.1007/s12311-012-0412-4
18. Freund AA, Scola RH, Teive HA et al. Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals. Arq Neuropsiquiatr 2009: 67: 1124-1132.
19. Takano H, Cancel G, Ikeuchi T et al. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet 1998: 63: 1060-1066.
20. Storey E, du Start D, Shaw JH et al. Frequency of spinocerebellar ataxia types 1, 2, 3, 6 and 7 in Australian patients with spinocerebellar ataxia. Am J Med Genet 2000: 95: 351-357.
21. Laffita-Mesa JM, Velázquez-Pérez L, Santos-Falcón M et al. Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles. Eur J Hum Genet 2012: 20: 41-49.
22. Pujana MA, Corral J, Gratacos M et al. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. Hum Genet 1999: 104: 516-522.
23. Saleem Q, Choudhry S, Mukerji M 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.
24. Alluri RV, Komandur S, Wagheray A et al. Molecular analysis of CAG repeats at five different spinocerebellar ataxia loci: correlation and alternative explanations for disease pathogenesis. Mol Cells 2007: 24: 338-342.
25. Krishna N, Mohan S, Yashavantha BS et al. SCA1, SCA2 & SCA3/MJD mutations in ataxia syndromes in southern India. Indian J Med Res 2007: 126: 465-470.
26. Stevanin G, David G, Dürr A et al. Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including intragenic polymorphism (G3145TG/A3145TG). Eur J Hum Genet 1999: 7: 889-896.
27. Elden AC, Kim HJ, Hart MP et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 2010: 466 (7310): 1069-1075.
28. Conforti FL, Spataro R, Sproviero W et al. Ataxin-1 and ataxin-2 intermediate-length polyQ expansions in amyotrophic lateral sclerosis. Neurology 2012: 79 (24): 2315-2320.
29. Otero-Siliceo E, Arriada-Mendicoa N. Amyotrophic lateral sclerosis in Mexico: validation of two predictive scales. Muscle Nerve 1997: 20 (9): 1181-1183.
30. Martínez HR, Molina-López JF, Cantú-Martínez L et al. Survival and clinical features in Hispanic amyotrophic lateral sclerosis patients. Amyotroph Lateral Scler 2011: 12 (3): 199-205.