Ataxie de Friedreich: Les expansions de triplets frappent encore

Medecine/Sciences

Volumn 12, Issue 3, 1996, Pages 431-435

  Koenig, Michel ^a   Campuzano, Victoria ^a   Cossée, Mireille ^a   Mandel, Jean Louis ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0010513264     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.4267/10608/760     Document Type: Article

References (34)

1. Campuzano V, Montermini L, Moltó MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani S, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, de Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M. Friedreich ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996 (sous presse).
2. Friedreich N. Uber degenerative Atrophie der spinalen Hinterstränge. Virchows Ach Pathol Anat 1863; 26: 391-419.
3. Skre, H. (1980) Epidemiology of spinocerebellar degeneration in Western Norway: hereditary diseases (University of Tokyo press, Tokyo), p 103.
4. Leone M, Brignolio F, Rosso MG, Curtoni ES, Moroni A, Tribolo A, Schoffer D. Friedreich's ataxia: a descriptive epidemiological study in an Italian population Clin Genet 1990; 38: 161-9.
5. Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C, Bouchard JP, et al. Clinical description and roentgenologic evaluation of patients with Friedreich ataxia. Can J Neurol Sci 1976; 3: 279-86.
6. Harding AE. Friedreich ataxia: a clinical and genetic study of 90 families with an analysis of early diagnosis criteria and intrafamilial clustering of clinical features. Brain 1981; 104: 589-620.
7. Chamberlain S, Shaw J, Rowland A, Wallis J, South S, Nakamura Y, von Gabain A, Farrall M, Williamson R. Mapping of mutation causing Friedreich ataxia to human chromosome 9. Nature 1988; 334: 248-50.
8. Fujita R, Agid Y, Trouillas P, Seck A, Tommasi-Davenas C, Driesel AJ, Olek K, Grzeschik KH, Nakamura Y, Mandel JL, Hanauer H, et al. Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. Genomics 1989; 4: 110-1.
9. Hanauer A, Chery M, Fujita R, Driesel AJ, Gilgenkrantz S, Mandel JL. The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15. Am J Hum Genet 1990; 46: 133-7.
10. Chamberlain S, Shaw J, Wallis J, Rowland A, Chow L, Farral M, Keats B, Richter A, Roy M, Melançon S, Deufel T, Berciano J, Williamson R. Genetic homogeneity at the Friedreich ataxia locus on chromosome 9. Am J Hum Genet 1989; 44: 518-21.
11. Pandolfo M, Sirugo G, Antonelli A, Weitnauer L, Ferreti L, Leone M, Dones I, Cerino A, Fujita R, Hanauer A, Mandel JL, Di Donato S. Friedreich ataxia in Italian Families: Genetic Homogeneity and Linkage disequilibrium with the marker Loci D9S5 and D9S15. Am J Hum Genet 1990; 47: 228-35.
12. Wilkes D, Shaw J, Anand R, Riley J, Winter P, Wallis J, Driesel AG, Williamson R, Chamberlain S. Identification of CpG islands in a physical map encompassing the Friedreich ataxia locus. Genomics 1991; 9: 90-5.
13. Fujita R, Hanauer A, Vincent A, Mandel JL, Koenig M. Physical mapping of two loci (D9S5 and D9S15) tightly linked to Friedreich ataxia locus (FRDA) and identification of nearby CpG islands by pulse-field gel electrophoresis. Genomics 1991; 10: 915-20.
14. Fujita R, Hanauer A, Sirugo G, Heilig R, Mandel JL. Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia. Proc Natl Acad Sci USA 1990; 87: 1796-800.
15. Fujita R, Sirugo G, Duclos F, Abderrahini H, Le Paslier D, Cohen D, Brownstein BH, Schlessinger D, Mandel JL, Koenig M. A 530 kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite. Hum Genet 1092; 89: 531-8.
16. Rodius F, Duclos F, Wrogemann K, Le Paslier D, Ougen P, Billault A, Belal S, Musenger C, Brice A, Dürr A, Mignard C, Sirugo G, Weissenbach J, Cohen D, Hentati F, Ben Hamida M, Mandel JL, Koenig M. Recombinations in individuals homozygous by descent localize the Friedreich Ataxia locus in a cloned 450-kb interval. Am J Hum Genet 1994; 54: 1050-9.
17. Montermini L, Rodius F, Pianese L, Moltó MD, Cossée M, Campuzano V, Cavalcanti F, Monticelli A, Palau F, Gyapay G, Wenhert M, Zara F, Patel PI, Cocozza S, Koenig M, Pandolfo M. The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13. Am J Hum Genet 1995; 57: 1061-7.
18. Sirugo G, Keats B, Fujita R, Duclos F, Purohit K, Koenig M, Mandel JL. Friedreich ataxia locus in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes. Am J Hum Genet 1992; 50: 559-66.
19. Chamberlain S, Farrall M, Shaw J, Wilkes D, Carvajal J, Hillermann R, Doudney K, Harding AE, Williamson R, Sirugo G, Fujita R, Koenig M, Mandel JL, Palau F, Monros E, Vilchez J, Prieto F, Richter A, Vanasse M, Melancon S, Coccoza S, Redolfi E, Cavalcanti F, Pianese L, Filla A, Di Donato S, Pandolfo M. Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q. Am J Hum Genet 1993; 52: 99-109.
20. Belal S, Kyproula P, Sirugo G, Ben Hamida C, Panos I, Hentati F, Beckmann J, Koenig M, Mandel JL, Ben HM, Middleton LT. Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus. Am J Hum Genet 1992; 51: 1372-6.
21. Ben Hamida M, Belal S, Sirugo G, Ben Hamida C, Panayides K, Ioannou P, Beckmann J, Mandel JL, Hentati F, Koenig M, Middleton L. Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recesshe vitamin E deficiency in two inbred Tunisian families. Neurology 1993; 43: 2179-83.
22. Burck U, Goebel HH, Kuhlendahl HD, Meier C, Goebel KM. Neuromyopathy and vitamin E deficiency in man. Neuropediatrics 1981; 12: 267-78.
23. Ben Hamida C, Dœrflinger N, Belal S, Linder C, Reutenauer L, Dib C, Gvapay G, Vignal A, Le Paslier D, Cohen D, Pandolfo M, Mokini V, Novelli G, Hentati F, Ben Hamida M, Mandel JL, Koenig M. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nature Genet 1993; 5: 195-200.
24. Ouahchi K, Arita M, Kayden HJ, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M. Ataxia with isolated vitamin E deficiency is caused by mutations in the α-tocopherol transfer protein. Nature Genet 1995; 9: 141-5.
25. Duclos F, Rodius F, Wrogemann K, Mandel JL, Koenig M. The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb. Hum Mol Genet 1994; 3: 909-14.
26. Duclos F, Boschert U, Sirugo G, Mandel J-L, Hen R, Koenig M. Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system. Proc Natl Acad Sci USA 1993; 90: 109-13.
27. Carvajal J, Pook MA, Doudney K, Hillermann R, Wilkes D, Al-Mahdawi S, Williamson R, Chamberlain S. Friedreich ataxia: a defect in signal transduction? Hum Mol Genet 1995; 4: 1411-9.
28. Sobell JL, Lind TJ, Sigurdson DC, Zald DH, Snitz BE, Grove WM, Heston LL, Sommer SS. The D5 dopamine receptor gene in schizophrenia: identification of a nonsense change and multiple missense changes but lack of association with the disease. Hum Mol Genet 1995; 4: 507-14.
29. Nothen MM, Cichon S, Hemmer S, Hebebrand J, Remschmidt H, Lehmkuhl G, Poustka F, Schmidt M, Catalano M, Fimmers R, Körner J, Rietschel M, Propping P. Human dopamine D4 receptor gene frequent occurrence of a null allele and observation of homozygosity. Hum Mol Genet 1994; 3: 2207-12.
30. Takahashi R, Yokoji H, Misawa H, Hayashi M, Hu J, Deguchi T. A null mutation in the human CNTF gene is not causally related to neurological diseases. Nature Genet 1994; 7: 79-84.
31. Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, Agid Y, Brice A, Mandel JL. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 1995; 378: 403-6.
32. Gacy AM, Goellner G, Juranic N, Macura S, McMurray CT. Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 1995; 81: 533-40.
33. Chen X, Mariappan SVS, Catasti P, Ratliff R, Moyzis RK, Laayoun A, Smith SS, Bradbury EM, Gupta G. Hairpins are formed by the single DNA strands of the fragile X triplet repeats: structure and biological implications. Proc Natl Acad Sci USA 1996; 92: 5199-203.
34. Imbert G, Kretz C, Johnson K, Mandel JL Origin of the expansion mutation in myotonic dystrophy. Nature Genet 1993; 4: 72-6.