The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients

Neurologia i Neurochirurgia Polska

Volumn 44, Issue 3, 2010, Pages 238-245

  Sułek Pia̧tkowska, Anna ^a   Zdzienicka, Elzbieta ^a   Raczyńska Rakowicz, Maria ^b   Krysa, Wioletta ^a   Rajkiewicz, Marta ^a   Szirkowiec, Walentyna ^a   Zaremba, Jacek ^a  

^a INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^b Medycyny Do wiadczalnej i Klinicznej PAN   (Poland)

Author keywords

CAG repeats; Dynamic mutations; Spinocerebellar ataxias (SCA)

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; DISEASE CLASSIFICATION; DYSARTHRIA; FEMALE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; ONSET AGE; POLAND; POLYNEUROPATHY; PYRAMIDAL SIGN; SPINOCEREBELLAR DEGENERATION;

EID: 77954748888     PISSN: 00283843     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0028-3843(14)60037-2     Document Type: Article

References (51)

1. Holmes G. An attempt to classify cerebellar disease with a note on Marie's hereditary cerebellar ataxia. Brain 1907; 30: 466-489.
2. Harding AE. Inherited ataxias. Curr Opin Neurol 1995; 8: 306-309.
3. Stevanin G., Dürr A., Brice A. Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J Hum Genet 2000; 8: 4-18. (Pubitemid 30113790)
4. Schols L., Bauer P., Schmidt T., et al. Autosomal dominant cerebellar ataxias: clinical features, genetics and pathogenesis. Lancet Neurol 2004; 3: 291-304. (Pubitemid 38510200)
5. Klockgether T. The clinical diagnosis of autosomal dominant spinocerebellar ataxias. Cerebellum 2008; 7: 101-105.
6. Watanabe H., Tanaka F., Matsumoto M., et al. Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6. Clin Genet 1998; 53: 13-19.
7. Silveira I., Coutinho P., Maciel P., et al. Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families. Am J Med Genet 1998; 81: 134-138.
8. Orozco Diaz G., Nodarse Fleites A., Cordovés Sagaz R., et al. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogenous population of Holquin, Cuba. Neurology 1990; 40: 1369-1375.
9. Velázquez Pérez L., Cruz G.S., Santos Falcón N., et al. Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin. Neurosci Lett 2009; 454: 157-160.
10. Schols L., Krüger R., Amoiridis G., et al. Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. J Neurol Neurosurg Psychiatry 1998; 64: 67-73.
11. Jin D., Oh M.R., Song S.M., 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: 207-210.
12. Rakowicz M., Zdzienicka E., Poniatowska R., et al. Ataksja rdzeniowo-móżdżkowa typu 1 i 2 - porównanie oceny klinicznej, elektrofizjologicznej i rezonansu magnetycznego. Neurol Neurochir Pol 2005; 39: 263-275.
13. Niewiadomska M., Rakowicz M., Zdzienicka E., et al. Obraz elektrofizjologiczny w przypadkach SCA 1 - badania własne. Aktualn Neurol 2005; 5: 112-116.
14. Schmitz-Hübsch T., Coudert M., Bauer P., et al. Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and non-ataxia symptoms. Neurology 2008; 71: 982-989.
15. Filla A., De Michele G., Campanella G., et al. Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes. J Neurol Sci 1996; 142: 140-147. (Pubitemid 26340423)
16. Genetic instabilities and hereditary neurological diseases. Wells R.D., Warren S.T. (eds.). Academic Press, San Diego 1998.
17. Belal S., Cancel G., Stevanin G., et al. Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. Neurology 1994; 44: 1423-1426.
18. Lastres-Becker I., Rüb U., Auburger G. Spinocerebellar ataxia 2 (SCA2). Cerebellum 2008; 7: 115-124.
19. Rüb U., Bürk K., Schöls L. Damage to the reticulosegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3. Neurology 2004; 63: 1258-1263.
20. Day J.W., Schut L.J., Moseley M.L., et al. Spinocerebellar ataxia type 8: clinical features in a large family. Neurology 2000; 55: 649-657.
21. Koide R., Kobayashi S., Shimohata T., et al. A neurological disease caused by an expanded CAG trinucleotide repeat i the TATA-box binding protein gene: a new polyglutamine disease? Hum Mol Genet 1999; 8: 2047-2053.
22. Benton C.S., de Silva R., Rutledge S.L., et al. Molecular and clinical studies in SCA 7 define a broad clinical spectrum and the infantile phenotype. Neurology 1998; 51: 1081-1086.
23. Grewal R., Achari M., Matsuura T., et al. Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10. Arch Neurol 2002; 59: 1285-1290. (Pubitemid 34856382)
24. Maschke M., Oehlert G., Xie T.D., et al. Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. Mov Disord 2005; 20: 1405-1412.
25. Arpa J., Cuesta A., Cruz-Martínez A., et al. Clinical features and genetic analysis of a Spanish family with spinocerebellar ataxia 6. Acta Neurol Scand 1999; 99: 43-47. (Pubitemid 29012616)
26. Holmes S., O'Hearn E., McInnis M.G., et al. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet 1999; 23: 391-392.
27. Orr H.T., Chung M.Y., Banfi S., et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993; 4: 221-225.
28. Pulst S.M., Nechiporuk A., Nechiporuk T., et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996; 14: 269-276.
29. Stevanin G., Sousa P.S., Cancel G., et al. The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q. Neurobiol Dis 1994; 1: 79-82.
30. Zhuchenko O., Bailey J., Bonnen P., et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997; 15: 62-69.
31. David G., Abbas N., Stevanin G., et al. Cloning of the SCA 7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997; 17: 65-70.
32. Nagafuchi S., Yanagisawa H., Sato K. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 1994; 6: 14-18.
33. Schöls L., Vieira-Saecker A.M., Schöls S., et al. Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. Hum Mol Genet 1995; 4: 1001-1005.
34. Sulek A., Hoffman-Zacharska D., Zdzienicka E., et al. SCA8 repeat expansion coexists with SCA1 - not only with SCA6. Am J Hum Genet 2003; 73: 972-974. (Pubitemid 37271899)
35. Leggo J., Dalton A., Morrison P.J., et al. Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubralpallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK. J Med Genet 1997; 34: 982-985. (Pubitemid 27522101)
36. Khati C., Stevanin G., Durr A., et al. Genetic heterogenity of autosomal dominant cerebellar ataxia type 1. Clinical and genetic analysis of 10 French families. Neurology 1993; 43: 1131-1137. (Pubitemid 23177712)
37. Filla A., Mariotti C., Caruso G., et al. Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubralpallidoluysian atrophy in 116 Italian families. Eur Neurol 2000; 44: 31-36.
38. 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: 727-733.
39. Illarioshkin S.N., Slominsky P.A., Ovchinnikov I.V., et al. Spinocerebellar ataxia type 1 in Russia. J Neurol 1996; 243: 506-510.
40. Onodera O., Aoki M., Tsuda T., et al. High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan. J Neurol Sci 2000; 178: 153-158.
41. Riess O., Laccone F.A., Gispert S., et al. SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1997; 1: 59-64.
42. Basu P., Chattpadadhyay B., Gangopadhaya P.K., et al. Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7, and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India. Hum Genet 2000; 106: 597-604. (Pubitemid 30427013)
43. 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: 540-544. (Pubitemid 30212128)
44. Gu W., Wang Y., Liu X., et al. Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds. Arch Neurol 2000; 57: 1513-1518.
45. Higgins J.J., Nee L.E., Vasconcelos O., et al. Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology 1996; 46: 208-213. (Pubitemid 26156131)
46. Stevanin G., Cassa E., Cancel G., et al. Characterization of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease. J Med Genet 1995; 32: 827-830.
47. Ikeuchi T., Takano H., Koide R., et al. Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol 1997; 42: 879-884.
48. Storey E., du Sart D., Shaw J.H., et al. Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinoeerebellar ataxia. Am J Med Genet 2000; 95: 351-357.
49. Modi G., Modi M., Martinus I., et al. The clinical and genetic characteristics of spinocerebellar ataxia type 7 (SCA 7) in three Black South African families. Acta Neurol Scand 2000; 101: 177-182. (Pubitemid 30112298)
50. Kanazawa I. Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease. Neurogenetics 1998; 2: 1-17.
51. Subramony S.H., Hernandez D., Adam A., et al. Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. Mov Disord 2002; 17: 1068-1071.