Spinocerebellar ataxias in Brazil - Frequencies and modulating effects of related genes

Cerebellum

Volumn 13, Issue 1, 2014, Pages 17-28

  De Castilhos, Raphael Machado ^a,p,q   Furtado, Gabriel Vasata ^a,p   Gheno, Tailise Conte ^a,p   Schaeffer, Paola ^a   Russo, Aline ^a   Barsottini, Orlando ^b   Pedroso, José Luiz ^b   Salarini, Diego Z ^c   Vargas, Fernando Regla ^d,e,f   De Lima, Maria Angélica De Faria Domingues ^e,f   Godeiro, Clécio ^g   Santana da Silva, Luiz Carlos ^h,q   Toralles, Maria Betânia Pereira ⁱ   Santos, Silvana ^j,q   Van Der Linden Jr , Hélio ^k   Wanderley, Hector Yuri ^l   De Medeiros, Paula Frassineti Vanconcelos ^m   Pereira, Eliana Ternes ⁿ   Ribeiro, Erlane ^o   Saraiva Pereira, Maria Luiza ^a,p,q   Jardim, Laura Bannach ^a,p,q   more..

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^c FACULDADE DE CIÊNCIAS MÉDICAS DA SANTA CASA DE SÃO PAULO   (Brazil)

^d FEDERAL UNIVERSITY OF THE STATE OF RIO DE JANEIRO   (Brazil)

^e FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^f INSTITUTO NACIONAL DE CÂNCER   (Brazil)

^g FEDERAL UNIVERSITY OF RIO GRANDE DO NORTE   (Brazil)

^h FEDERAL UNIVERSITY OF PARÁ   (Brazil)

ⁱ FEDERAL UNIVERSITY OF BAHIA   (Brazil)

^j STATE UNIVERSITY OF PARAÍBA   (Brazil)

^k CRER Centro de Reabilitação Dr Henrique Santillo   (Brazil)

^l Universidad Francisco de Vitoria   (Brazil)

^m FEDERAL UNIVERSITY OF CAMPINA GRANDE   (Brazil)

ⁿ FEDERAL UNIVERSITY OF SANTA CATARINA   (Brazil)

^o Associação Cearense de Doenças Genéticas   (Brazil)

^p FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^q Instituto Nacional de Genética Médica Populacional INAGEMP   (Brazil)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 1; ATAXIN 3; ATAXIN 7; PROTEIN;

AGE; ALLELE; ARTICLE; BRAZIL; CAG REPEAT; CAPILLARY ELECTROPHORESIS; COMORBIDITY; DISEASE ASSOCIATION; DRPLA GENE; ETHNIC DIFFERENCE; EYE MOVEMENT DISORDER; FAMILY HISTORY; GENE; GENE FREQUENCY; GENE INTERACTION; GENETIC ASSOCIATION; GEOGRAPHIC DISTRIBUTION; HUMAN; MODIFIER GENE; MOLECULAR DIAGNOSIS; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PYRAMIDAL SIGN; REFLEX DISORDER; SCA1 GENE; SCA10 GENE; SCA12 GENE; SCA17 GENE; SCA2 GENE; SCA3 MJD GENE; SCA6 GENE; SCA7 GENE; SPINOCEREBELLAR DEGENERATION; TREMOR; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; AGE OF ONSET; BRAZIL; CHILD; CONTINENTAL POPULATION GROUPS; DNA MUTATIONAL ANALYSIS; FAMILY; HUMANS; MIDDLE AGED; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PHENOTYPE; REPRESSOR PROTEINS; SEIZURES; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION; YOUNG ADULT;

EID: 84896457747     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-013-0510-y     Document Type: Article

References (62)

1. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxia: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004;3(5):291-304. (Pubitemid 38510200)
2. Bird TD. Hereditary Ataxia Overview. 1998 Oct 28 [Updated 2012 May 31]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. http://www.ncbi.nlm. nih.gov/books/NBK1138/.
3. Sato N, Amino T, Kobayashi K, et al. Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet. 2009;85:544-57.
4. Kobayashi H, Abe K, Matsuura T, et al. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am J Hum Genet. 2011;89:121-30.
5. Sequeiros J, Martins S, Silveira I. Epidemiology and population genetics of degenerative ataxias. Handb Clin Neurol. 2012;103:227-51.
6. Rasmussen A, Matsuura T, Ruano L, et al. Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. Ann Neurol. 2001;50(2):234-9. (Pubitemid 32738149)
7. Teive HA, Roa BB, Raskin S, et al. Clinical phenotype of Brazilian families with spinocerebellar ataxia 10. Neurology. 2004;63(8):1509-12. (Pubitemid 39426293)
8. Alonso I, Jardim LB, Artigalas O, et al. Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10. Neurology. 2006;66(10):1602-4. (Pubitemid 43958573)
9. Trott A, Jardim LB, Ludwig HT, et al. Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings. Clin Genet. 2006;70(2):173-6. (Pubitemid 44028106)
10. Gatto EM, Gao R, White MC, et al. Ethnic origin and extrapyramidal signs in an Argentinean spinocerebellar ataxia type 10 family. Neurology. 2007;69:216-8. (Pubitemid 47051728)
11. Teive HA, Munhoz RP, Arruda WO, Raskin S, Werneck LC, Ashizawa T. Spinocerebellar ataxia type 10 - a review. Parkinsonism Relat Disord. 2011;17(9):655-61.
12. García-Murias M, Quintáns B, Arias M, et al. Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization. Brain. 2012;135(Pt 5):1423-35.
13. Basri R, Yabe I, Soma H, Sasaki H. Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families. J Hum Genet. 2007;52:848-55. (Pubitemid 47512853)
14. Teive HA, Munhoz RP, Arruda WO, et al. Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families. Clinics. 2012;67(5):443-9.
15. Ranum LPW, Chung MY, Banfi S, Bryer A, Schut LJ, Ramesar R, et al. Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am J Hum Genet. 1994;55(2):244-52. (Pubitemid 24233207)
16. Maciel P, Gaspar C, DeStefano AL, Silveira I, Coutinho P, Radvany J, et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet. 1995;57(1):54-61.
17. Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen JT, Riess O. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol. 1997;42(6):924-32. (Pubitemid 28008424)
18. Pulst SM, Santos N, Wang D, Yang H, Huynh D, et al. Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset. Brain. 2005;128:2297-303. (Pubitemid 41407970)
19. Gomez CM. Spinocerebellar Ataxia Type 6. 1998 Oct 23 [Updated 2008 Jun 16]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. http://www.ncbi.nlm.nih.gov/books/NBK1140/.
20. Michalik A, Martin J-J, Van Broeckhoven C. Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur J Hum Genet. 2004;12(1):2-15. (Pubitemid 38180965)
21. Han Y, Yu L, Zheng HM, Guan YT. Clinical and genetic study of spinocerebellar ataxia type 7 in East Asian population. Chin Med J (Engl). 2010;123(16):2274-8.
22. DeStefano AL, Cupples LA, Maciel P, Gaspar C, Radvany J, Dawson DM, Sudarsky L, Corwin L, Coutinho P, MacLeod P, Sequeiros J, Rouleau GA, Farrer LA. A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. Am J Hum Genet. 1996; 59(1):119-127. (Pubitemid 26189736)
23. Jardim L, Silveira I, Pereira ML, et al. Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype. Acta Neurol Scand. 2003;107(3):211-4. (Pubitemid 36398997)
24. Bettencourt C, Raposo M, Kazachkova N, Cymbron T, Santos C, Kay T, et al. The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease. Arch Neurol. 2011;68(12):1580-3.
25. Emmel VE, Alonso I, Jardim LB, Saraiva-Pereira ML, Sequeiros J. Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients? Clin Genet. 2011;79(1):100-2.
26. Miller SA, Dykes DD, Polesky HF. A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
27. Cagnoli C, Michielotto C, Matsuura T, Ashizawa T, Margolis RL, Holmes SE, et al. Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. J Mol Diagn. 2004;6(2):96-100. (Pubitemid 38578984)
28. Almeida T, Alonso I, Martins S, et al. Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS One. 2009;4(2):e4553
29. Parra FC, Amado RC, Lambertucci JR, Rocha J, Antunes CM, Pena SDJ. Color and genomic ancestry in Brazilians. PNAS. 2003;100:177-82. (Pubitemid 36078048)
30. Pena SDJ, Pietro GD, Fuchshuber-Moraes M, et al. (2013) The Genomic Ancestry of Individuals from Different Geographical Regions of Brazil Is More Uniform Than Expected. PLoS One 6(2):e17063. doi:10.1371/journal.pone.0017063.
31. Andrés AM, Lao O, Soldevila M, Calafell F, Bertranpetit J. Dynamics of CAG repeat loci revealed by the analysis of their variability. Hum Mutat. 2002;21:61-70. (Pubitemid 36070457)
32. Jardim LB, Silveira I, Pereira ML, et al. A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. J Neurol. 2001;248(10):870-6. (Pubitemid 32955671)
33. Trento A. Do outro lado do Atlântico-Um século de Imigração Italiana no Brasil. São Paulo: Nobel; 1988.
34. Filla A, Mariotti C, Caruso G, et al. Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families. Eur Neurol. 2000;44(1):31-6. (Pubitemid 30456789)
35. Brusco A, Gellera C, Cagnoli C, et al. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol. 2004;61(5):727-33. (Pubitemid 38637691)
36. David G, Giunti P, Abbas N, et al. The gene for autosomal dominat cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus. Am J Hum Genet. 1996;59(6):1328-36. (Pubitemid 26394125)
37. Bryer A, Krause A, Bill P, et al. The hereditary adult-onset ataxias in South Africa. J Neurol Sci. 2003;216(1):47-54. (Pubitemid 37371865)
38. Greenberg J, Solomon GAE, Vorster AA, Heckmann J, Bryer A. Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics. Clin Genet. 2006;70:415-7. (Pubitemid 44515644)
39. Teive HA, Munhoz RP, Raskin S, et al. Spinocerebellar ataxia type 10: frequency of epilpesy in a large sample of Brazilian patients. Mov Disord. 2010;25(16):2875-8.
40. Raskin S, Ashizawa T, Teive HA, et al. Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10. Arch Neurol. 2007;64(4):591-4. (Pubitemid 46588351)
41. Matsuura T, Yamagata T, Burgess DL, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000;26(2):191-4.
42. Maruyama H, Izumi Y, Morino H, et al. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients. Am J Med Genet. 2002;114(5):578-83. (Pubitemid 34680589)
43. Schmitz-Hübsch T, Coudert M, Bauer P, et al. Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. Neurology. 2008;71(13):982-9.
44. Jardim LB, Hauser L, Kieling C, et al. Progression rate of neurological deficits in a 10-year cohort of SCA3 patients. Cerebellum. 2010;9(3):419-28.
45. Jacobi H, Bauer P, Giunti P, et al. The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology. 2011;77(11):1035-41.
46. du Montcel TS, Charles P, Goizet C, et al. Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia. Arch Neurol. 2012;69(4):500-8.
47. Uchihara T, Fujigasaki H, Koyano S, Nakamura A, Yagishita S, et al. Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias - triple-labeling immunofluorescence study. Acta Neuropathol. 2001;102:149-52. (Pubitemid 32771662)
48. Lessing D, Bonini NM. Polyglutamine genes interact to modulate the severity and progression of neurodegeneration in Drosophila. PLoS Biol. 2008;6(2):e29.
49. Storey E, du Sart D, Shaw JH, Lorentzos P, Kelly L, McKinley Gardner RJ, 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(4):351-7.
50. Jiang H, Tang B, Xu B, Zhao GH, Shen L, Tang JG, et al. Frequency analysis of autosomal dominant spinocerebellar ataxias in Han population in the Chinese mainland and clinical and molecular characterization of spinocerebellar ataxia type 6. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005;22(1):1-4. (Pubitemid 40222996)
51. Juvonen V, Hietala M, Kairisto V, Savontaus ML. The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population. Acta Neurol Scand. 2005;111(3):154-62. (Pubitemid 40278580)
52. Srivastava AK, Choudhry S, Gopinath MS, Roy S, Tripathi M, Brahmachari SK, et al. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann Neurol. 2001;50(6):796-800. (Pubitemid 33116140)
53. Jin DK, Oh MR, Song SM, Koh SW, Lee M, Kim GM, et al. Frequency of spinocerebellar ataxia types 1,2,3,6,7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia. J Neurol. 1999;246(3):207-10. (Pubitemid 29188841)
54. Alonso E, Martínez-Ruano L, De Biase I, Mader C, Ochoa A, Yescas P, et al. Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population. Mov Disord. 2007;22(7):1050-3. (Pubitemid 46999310)
55. van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, Scheffer H, Brunt ER, Ippel PF, et al. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology. 2002;58(5):702-8. (Pubitemid 34211547)
56. Vale J, Bugalho P, Silveira I, Sequeiros J, Guimarães J, Coutinho P. Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal. Eur J Neurol. 2010;17(1):124-8.
57. Dragasević NT, Culjković B, Klein C, Ristić A, Keckarević M, Topisirović I, et al. Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients. Mov Disord. 2006;21(2):187-91.
58. Smith DC, Bryer A, Watson LM, Greenberg LJ. Inherited polyglutamine spinocerebellar ataxias in South Africa. S Afr Med J. 2012;102(8):683-6.
59. Pujana MA, Corral J, Gratacòs M, Combarros O, Berciano J, Genís D, et al. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. Hum Genet. 1999;104(6):516-22. (Pubitemid 29370929)
60. Tsai HF, Liu CS, Leu TM, Wen FC, Lin SJ, Liu CC, et al. Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan. Acta Neurol Scand. 2004;109(5):355-60.
61. Moseley ML, Benzow KA, Schut LJ, Bird TD, Gomez CM, Barkhaus PE, et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology. 1998;51(6):1666-71. (Pubitemid 28565250)
62. Socal M, Emmel V, Rieder C, Hilbig A, Saraiva-Pereira M, Jardim L Intrafamilial variability of Parkinson phenotype in SCAs: Novel cases due to SCA2 and SCA3 expansions. Parkinsonism Relat Disord. 2009:15(5):374-8.