Molecular genetics and pathogenesis of Friedreich ataxia

Neuromuscular Disorders

Volumn 8, Issue 6, 1998, Pages 409-415

  Pandolfo, Massimo ^a,b  

^a CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

Friedreich ataxia; Molecular genetics; Pathogenesis

Indexed keywords

FREE RADICAL;

AUTOSOMAL RECESSIVE INHERITANCE; CONFERENCE PAPER; FRIEDREICH ATAXIA; HUMAN; MITOCHONDRION; MOLECULAR GENETICS; OXIDATIVE STRESS; PATHOGENESIS; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

FRIEDREICH ATAXIA; GENOTYPE; HUMANS; IRON-BINDING PROTEINS; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POINT MUTATION; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 0032145086     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00039-X     Document Type: Conference Paper

References (47)

1. [1] Babcock M, de Silva D, Oaks R, Davis-Kaplan S, Jiralerspong S, Montermini L, Pandolfo M, Kaplan J. Regulation of mitochondrial iron accumulation by Yfh1, a putative homolog of frataxin. Science 1997;276:1709-1712.
2. [2] Barbeau A, Roy M, Sadibelouiz M, Wilensky MA. Recessive ataxia in Acadians and 'Cajuns'. Can J Neurol Sci 1984;11:526-533.
3. [3] Bidichandani S, Ashizawa T, Patel PI. Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. Am J Hum Genet 1997;60:1251-1256.
4. [4] Bouchard JP, Barbeau A, Bouchard R, Paquet M, Bouchard RW. A cluster of Friedreich's ataxia in Rimouski, Quebec. Can J Neurol Sci 1979;6:205-208.
5. [5] 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 J-L, Cocozza S, Koenig M, Pandolfo M. Friedreich ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-1427.
6. [6] Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, Trottier Y, Kish SJ, Faucheux B, Trouillas P, Authier FJ, Dürr A, Mandel J-L, Vescovi AL, Pandolfo M, Koenig M. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6:1771-1780.
7. [7] Carvajal J, Pook MA, dos Santos M, Doudney K, Hillermann R, Minogue S, Williamson R, Hsuan JJ, Chamberlain S. The Friedreich's ataxia gene encodes a novel phophatidylinositol-4-phosphate 5-kinase. Nature Genet 1996;14:157-162.
8. [8] 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;4:1411-1419.
9. [9] 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;334:248-250.
10. [10] 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 J-L, 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.
11. [11] Cossée M, Campuzano, V., Koutnikova, H., Fischbeck, K.H., Mandel, J.-L., Koenig, M., Bidichandani, S., Patel, P.I., Moltó, M.D,. Cañizares, J., de Frutos, R., Pianese, L., Cavalcanti, F., Monticelli, A., Cocozza, S., Montermini, L., Pandolfo, M. Frataxin fracas. Nature Genet 1997a;15:337-338.
12. [12] Cossée M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel J-L, Koenig, M. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc. Natl. Acad. Sci. USA 1997b;94:7452-7457.
13. [13] De Michele G, Filla A, Cavalcanti F, Di Maio L, Pianese L, Castaldo I, Calabrese O, Monticelli A, Varrone S, Campanella G, Coccoza S. Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus. J Neurol Neurosurg Psychiatry 1994;57:977-979.
14. [14] Duclos F, Rodius F, Wrogemann K, Mandel J-L, Koenig M. The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb. Hum Mol Genet 1994;3:909-914.
15. [15] Dürr A, Cossée M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel J-L, Brice A, Koenig M. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335:1169-1175.
16. [16] Duval-Valentin G, Thuong NT, Helene C. Specific inhibition of transcription by triple helix-forming oligonucleotides. Proc Natl Acad Sci USA 1992;89:504-508.
17. [17] Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996;59:554-560.
18. [18] Fujita R, Agid Y, Trouillas P, Seck A, Tommasi-Davenas C, Driesel AJ, Olek K, Grzeschik KH, Nakamura Y, Mandel J-L, Hanauer A. Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. Genomics 1989; 4:110-111.
19. [19] 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;87:1796-1800.
20. [20] Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C, Bouchard JP. Clinical description and roentgenologic evaluation of patients with Friedreich ataxia. Can J Neurol Sci 1976;3:279-286.
21. [21] Harding AE. Friedreich's 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.
22. [22] Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983;1:1151-1155.
23. [23] Htun H, Dahlberg JE. Topology and formation of triple-stranded H-DNA. Science 1989;243:1571-1576.
24. [24] Imbert G, Kretz C, Johnson K, Mandel J-L. Origin of the expansion mutation in myotonic dystrophy. Nature Genet 1993;4:72-76.
25. [25] Jiralerspong S, Liu Y, Montermini L, Stifani S, Pandolfo M. Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo. Neurobiol Disease 1997;4:103-113.
26. [26] Klockgether T, Chamberlain S, Wullner U, Fetter M, Dittmann H, Petersen D, Dichgans J. Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging. Arch Neurol 1993;50:803-806.
27. [27] Kostrzewa M, Klockgether T, Damian MS, Müller U. Locus heterogeneity in Friedreich ataxia. Neurogenetics 1997;1:43-47.
28. [28] Koutnikova H, Campuzano V, Foury F, Dollé P, Cazzalini O, Koenig M. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nature Genet 1997;16:345-351.
29. [29] Lamarche JB, Shapcott D, Côté M, Lemieux B. Cardiac iron deposits in Friedreich's ataxia. In: Lechtenberg R, editor. Handbook of Cerebellar Diseases. New York: Marcel Dekker, 1993, pp. 453-458.
30. [30] Lamont PJ, Davis MB, Wood NW. Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates. Brain 1997;120:673-680.
31. [31] Leone M, Brignolio F, Rosso MG, Curtoni ES, Moroni A, Tribolo A, Schiffer D. Friedreich's ataxia: a descriptive epidemiological study in an Italian population. Clin Genet 1990;38:161-169.
32. [32] Monros E, Moltó MD, Martinez F, Cañizares J, Blanca J, Vilchez JJ, Prieto F, de Frutos R, Palau F. Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am J Hum Genet 1997;61:101-110.
33. [33] 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;57:1061-1067.
34. [34] Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castelloti B, Mercier J, Poirier J, Capazzoli F, Bouchard JP, Lemieux B, Mathieu J, Vanasse M, Seni MH, Graham G, Andermann F, Andermann E, Melançon S, Keats BJB, Di Donato S, Pandolfo M. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 1997a;41:675-682.
35. [35] Montermini L, Kish SJ, Jiralerspong S, Lamarche JB, Pandolfo M. Somatic mosaicism for the Friedreich's ataxia GAA triplet repeat expansions in the central nervous system. Neurology 1997b;49:606-610.
36. [36] Montermini L, Andermann E, Richter A, Pandolfo M, Cavalcanti F, Pianese L, Iodice L, Farina G, Monticelli A, Turano M, Filla A, De Michele G, Cocozza S. The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet 1997c;6:1261-1266.
37. [37] Ohshima K, Kang S, Larson JE, Wells RD. Cloning, characterization, and properties of seven triplet repeat DNA sequences. J Biol Chem 1996;271:16773-16783.
38. [38] Ohshima, K., Montermini, L., Wells, R.D., Pandolfo, M. Inhibitory effects of expanded GAA·TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. J Biol Chem. in press.
39. [39] Palau F, De Michele G, Vilchez JJ, Pandolfo M, Monros E, Cocozza S, Smeyers P, Lopez-Arlandis J, Campanella G, Di Donato S, Filla A. Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to Friedreich's ataxia locus on chromosome 9q. Ann Neural 1997;37:359-362.
40. [40] Pianese L, Cavalcanti F, De Michele G, Filla A, Campanella G, Calabrese O, Castaldo I, Monticelli A, Cocozza S. The effect of parental gender on the GAA dynamic mutation in the FRDA gene. Am J Hum Genet 1997;60:463-466.
41. [41] Richter A, Poirier J, Mercier J, Julien D, Morgan K, Roy M, Gosselin F, Bouchard JP, Melancon SB. Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes. Am J Med Genet 1996;64:594-601.
42. [42] 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;54:1050-1059.
43. [43] Romeo G, Menozzi P, Ferlini A, Fadda S, Di Donato S, Uziel G, Lucci B. Incidence of Friedreich ataxia in Italy estimated from consanguinous marriages. Am J Hum Genet 1983;35:523-529.
44. [44] Rötig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P. Frataxin gene expansion causes aconitase and mitochondrial iron-sulfur protein deficiency in Friedreich ataxia. Nature Genet 1997;17:215-217.
45. [45] Wells RD, Collier DA, Hanvey JC, Shimizu M, Wohlrab F. The chemistry and biology of unusual DNA structures adopted by oligopurine oligopyrimidine sequences. FASEB J 1988;2:2939-2949.
46. [46] Geschwind DH, Perlman S, Grody W, Telatar M, Montermini L, Paudolfo M, Gatti RA. The Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia. Neurology 1997;49:1004-1 009.
47. [47] Gellera C, Pareyson D, Castellotti B, Mazzucchelli F, Zappecoste B, Pandolfo M, Di Donato S. Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene. Neurology 1997;49:1153-1155.