Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG)

European Journal of Human Genetics

Volumn 7, Issue 8, 1999, Pages 889-896

  Stevanin, G ^f   David, G ^f   Durr A ^a   Giunti, P ^b   Benomar, A ^c   Abada Bendib, M ^d   Lee, M S ^e   Agid, Y ^f   Brice, A ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c IBN SINA HOSPITAL   (Morocco)

^d Centre Hospitalier et Universitaire de Beni Messous Algiers   (Algeria)

^e Yonsei University College of Medicine   (South Korea)

^f NONE

Author keywords

Autosomal dominant cerebellar ataxia type II; Chromosome 3; Founder effect; Linkage disequilibrium; Macular dystrophy; Microsatellite; Single nucleotide polymorphism; Spinocerebellar ataxia 7

Indexed keywords

ADENOSINE; GUANOSINE; MICROSATELLITE DNA; THYMINE;

ALLELE; ARTICLE; CENTROMERE; CONTROLLED STUDY; DEMOGRAPHY; DNA FLANKING REGION; EUROPE; FAMILY STUDY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC POLYMORPHISM; GERMANY; HAPLOTYPE; HEREDITARY ATAXIA; HIGH RISK POPULATION; HUMAN; ITALY; KOREA; MAJOR CLINICAL STUDY; MARKER GENE; NORTH AFRICA; PRIORITY JOURNAL; RURAL POPULATION; SOUTH AMERICA; SPINOCEREBELLAR DEGENERATION; UNITED KINGDOM; UNITED STATES;

EID: 0033401987     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200392     Document Type: Article

References (39)

1. Stevanin G, David G, Abbas N et al: Spinocerebellar Ataxia 7. In: Rubinsztein DC, Hayden M (eds). Trinucleotide Repeat Diseases. Bios Scientific Publisher: Oxford, 1998, 155-168.
2. Harding AE: Clinical features and classification of inherited ataxias. Adv Neurol 1993; 61: 1-14.
3. Benomar A, Le Guern E, Dürr A et al. Autosomaldominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I. Ann Neurol 1994; 35: 439-444.
4. Enevoldson TP, Sanders MD, Harding AE: Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. Brain 1994; 117: 445-460.
5. Gouw LG, Digre KB, Harris CP, Haines JH, Ptacek LJ: Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. Neurology 1994; 44: 1441-1447.
6. David G, Abbas N, Stevanin G et al: Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997; 17: 65-70.
7. Del-Favero J, Krols L, Michalik A et al: Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Hum Mol Genet 1998; 7: 177-186.
8. Koob MD, Benzow KA, Bird TDA, Day JW, Moseley ML, Ranum LPW: Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Nat Genet 1998; 18: 72-75.
9. Brice A: Unstable mutations and neurodegenerative disorders. J Neurol 1998; 245: 505-510.
10. Benton CS, de 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.
11. Dürr A, Cancel G, Stevanin G, David G, Didierjean O, Brice A: Features of autosomal dominant cerebellar ataxias with CAG repeat expansions. Am J Hum Genet 1998; 50 (suppl4): S31.002.
12. David G, Giunti P, Abbas N et al: The gene for autosomal dominant 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: 1328-1336.
13. Gouw LG, Castaneda MA, McKenna CK et al: Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Hum Mol Genet 1998; 7: 525-532.
14. Johansson J, Forsgren L, Sandgren O, Brice A, Holmgren G, Holmberg M: Expanded CAG repeat in Swedish Spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Hum Mol Genet 1998; 7: 171-176.
15. Lyoo CH, Hun K, Choi YC et al: CAG repeat expansion in the SCA7 gene in Korean families presenting with ADCA type II. J Kor Neurol Ass 1998; 16: 341-352.
16. Giunti P, Stevanin G, Worth P, David G, Brice A, Wood NW: Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. Am J Hum Genet 1999; 64: 1594-1603.
17. Benomar A, Krols L, Stevanin G et al: The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet 1995; 10: 84-88.
18. Jöbsis GJ, Weber JW, Barth PG et al: Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1. J Neurol Neurosurg Psychiatr 1997; 62: 367-371.
19. 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: 165-170.
20. Stevanin G, Giunti P, David G et al: De novo expansion of intermediate alleles in spinocerebellar ataxia 7. Hum Mol Genet 1998; 7: 1809-1813.
21. Krols L, Martin JJ, David G et al. Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1. Hum Genet 1997; 99: 225-232.
22. 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.
23. Feingold J: Le déséquilibre de liaison. Médecine/Sciences 1991; 7: 161-168.
24. Wakisaka A, Sasaki H, Takada A et al: Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry. J Med Genet 1995; 32: 590-592.
25. Mizushima K, Watanabe M, Kondo I et al: Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1-2 polymorphism and contribution to founder effect. J Med Genet 1999; 36: 112-114.
26. Didierjean O, Cancel G, Stevanin G et al: Linkage disequilibrium at the SCA2 locus. J Med Genet 1999; 36: 415-417.
27. Stevanin G, Cancel G, Didierjean O et al: Linkage disequilibrium at the Machado-Joseph disease/Spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation. Am J Hum Genet 1995; 57: 1247-1250.
28. Takiyama Y, Igarashi S, Rogaeva EA et al: Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 1995; 4: 1137-1146.
29. Gaspar C, Lopes-Cendes I, DeStefano AL et al: Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins. Hum Genet 1996; 98: 620-624.
30. Endo K, Sakashi H, Wakisaka A et al: Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease. Am J Med Genet 1996; 67: 437-444.
31. Stevanin G, Lebre AS, Mathieux C et al. Linkage disequilibrium between the spinocerebellar ataxia 3/ Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon. Am J Hum Genet 1997; 60: 1548-1552.
32. Goto J, Watanabe M, Ichikawa Y et al: Machado-Joseph disease gene products carrying different carboxyl termini. Neurosci Res 1997; 28: 373-377.
33. Dichgans M, Schols L, Herzog J et al: Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families. Neurology 1999; 52: 849-851.
34. Myers RH, MacDonald ME, Koroshetz WJ et al. De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nat Genet 1993; 5: 168-173.
35. Almqvist E, Spence N, Nichol K et al: Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease. Hum Mol Genet 1995; 4: 207-214.
36. Takano H, Cancel G, Ikeuchi T et al: Population genetics of dominantly inherited spinocerebellar ataxias with CAG repeat expansions in Japanese and Caucasian: tight association of the prevalence rates with the frequencies of intermediate alleles. Am J Hum Genet 1998; 63: 1060-1066.
37. Yanagisawa H, Fujii K, Nagafuchi S et al: A unique origin and multistep process for the generation of expanded DRPLA triplet repeats. Hum Mol Genet 1996; 5: 373-379.
38. Oudet C, Mornet E, Serre JL et al: Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes. Am J Hum Genet 1993; 52: 297-304.
39. Falik-Zaccai TC, Shachak E, Yalon M et al: Predisposition to the Fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype. Am J Hum Genet 1997; 60: 103-112.