Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families

Neurology

Volumn 43, Issue 11, 1993, Pages 2179-2183

  Ben Hamida, M ^a   Belal, S ^a   Sirugo, G ^c   Ben Hamida, C ^a   Panayides, K ^b   Ionannou, P ^b   Beckmann, J ^d   Mandel, J L ^c   Hentati, F ^a   Koenig, M ^c   Middleton, L ^b  

^a Institut National de Neurologie Tunisia   (Tunisia)

^b CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

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

^d FONDATION JEAN DAUSSET CEPH   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL;

ADULT; ALPHA TOCOPHEROL DEFICIENCY; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 9; CLINICAL ARTICLE; CLINICAL FEATURE; DEGENERATIVE DISEASE; DIAGNOSIS; DISEASE ASSOCIATION; ETIOLOGY; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; FRIEDREICH ATAXIA; GENE LOCUS; GENETIC LINKAGE; GENETIC MARKER; HUMAN; MALE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; TUNISIA; VITAMIN BLOOD LEVEL;

ADULT; CHROMOSOMES, HUMAN, PAIR 9; CONSANGUINITY; FEMALE; FRIEDREICH ATAXIA; HUMAN; LINKAGE (GENETICS); LOD SCORE; MALE; PHENOTYPE; SUPPORT, NON-U.S. GOV'T; TUNISIA; VITAMIN E DEFICIENCY;

EID: 0027430101     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.43.11.2179     Document Type: Article

References (36)

1. Geoffroy G, Barbeau A, Breton G, et al. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci 1976;3:279-287.
2. Ben Hamida M, Madani S, Zmerli S, Chami I. Les hérédo-dégénérescences spino-cérébelleuses en Tunisie, avec étude cystomanométrique des troubles sphinctériens. 204 cas de maladies de Friedreich, de Pierre-Marie et de Strumpell-Lorrain. Rev Neurol (Paris) 1980;8-9:495-501.
3. Ben Hamida M, Attia-Romdhane N, Triki C, Oueslati S, Hentati F. Analyse clinique et génétique de 188 familles d'hérédo-dégénérescence spino-cérébelleuse: maladies de Friedreich et hérédo-ataxies de P. Marie. Rev Neurol (Paris) 1991;147:798-808.
4. Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981;104:589-620.
5. Chamberlain S, Shaw J, Rowland A, et al. Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 1988;334:248-250.
6. Fujita R, Agid Y, Trouillas P. Confirmation of linkage of Friedreich's ataxia to chromosome 9 and identification of a new closely linked marker. Genomics 1989;4:110-111.
7. Hanauer A, Chery M, Fujita R, Driesel AJ, Gilgenkrantz S, Mandel JL. The Friedreich's ataxia gene is assigned to chromosome 9q13-21 by mapping to tightly linked markers and shows linkage disequilibrium with D9S15. Am J Hum Genet 1990;46:133-137.
8. Chamberlain S, Shaw J, Wallis J, et al. Genetic homogeneity at the Friedreich's ataxia locus on chromosome 9. Am J Hum Genet 1989;44:518-521.
9. Keats B, Ward LJ, Shaw J, Wickremasinghe A, Chamberlain S. Acadian and classical forms of Friedreich's ataxia are most probably caused by mutations at the same locus. Am J Med Genet 1989;33:266-268.
10. Pandolfo M, Sirugo G, Antonelli A, et al. Friedreich's ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15. Am J Hum Genet 1990;47:228-235.
11. Fujita R, Hanauer A, Sirugo G, et al. Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia. Proc Nat Acad Sci USA 1990;87:1796-1800.
12. Wallis J, Williamson R, Chamberlain S. Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedreich's ataxia. Hum Genet 1990;85:98-100.
13. Wilkes D, Shaw J, Anand R, et al. Identification of CpG islands in a physical map encompassing the Friedreich's ataxia locus. Genomics 1991;9:90-95.
14. Fujita R, Hanauer A, Vincent A, Mandel JL, Koenig M. Physical mapping of two loci (D9S5 and D9S15) tightly linked to Friedreich's ataxia locus (FRDA) and identification of nearby CpG islands by pulse-field gel electrophoresis. Genomics 1991;10:915-920.
15. Sirugo G, Keats B, Fujita R, et al. Friedreich's ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite generated extended haplotypes. Am J Hum Genet 1992;50:559-566.
16. Chamberlain S, Farrel M, Shaw J, et al. Genetic recombination events which position the Friedreich's ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q. Am J Hum Genet 1993;52,1:99-109.
17. Auburger G, Orozco Diaz G, Ferreira Capote R, et al. Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population. Am J Hum Genet 1990;46:1163-1177.
18. Khati C, Stevanin G, Durr A, et al. Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of 10 French families. Neurology 1993; 43:1131-1137.
19. Lovelace RE, Shapiro HK, eds. Charcot-Marie-Tooth disorders: pathophysiology, molecular genetics, and therapy. New York; Wiley-Liss, Lebo RV, 1990.
20. Lynch ED, Bird TD, Golbus MS, et al. Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMT 1A) gene-region markers. Am J Hum Genet 1992;50:42-55.
21. Belal S, Panayides K, Sirugo G, et al. Study of large inbred Friedreich's ataxia families reveals a recombination between D9S15 and the disease locus. Am J Hum Genet 1992;51:1372-1376.
22. Trabelsi Alouane L, Alguemi CH, Ghrib B. Détermination des taux plasmatiques des vitamines A et E chez les tunisiens: étude préliminaire. Méd. et Nut. 1988;XXIV:365-368.
23. Fujita R, Sirugo G, Duclos F, et al. A 530 kb YAC contig tightly linked to Friedreich's ataxia locus contains 5 CpG clusters and a new highly polymorphic microsatellite. Hum Genet 1992;89:531-538.
24. Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985;37:483-498.
25. Barbeau A. Distribution of ataxia in Quebec. In: Sobue I, ed. Spino-cerebellar degenerations. Tokyo: University of Tokyo Press, 1980:121-142.
26. Barbeau A. The Quebec cooperative study of Friedreich's ataxia: 1974-1984. 10 years of research. Can J Neurol Sci 1984;11:646-660.
27. Muller DPR, Lloyd JK, Wolff OH. Vitamin E and neurological function. Lancet 1983;1:225-228.
28. Harding AE, Matthews S, Jones S, Ellis CJK, Booth IW, Muller DPR. Spinocerebellar degeneration associated with a selective defect of vitamin E absorption. N Engl J Med 1985;313:32-35.
29. Stumpf DA, Sokol R, Bettis D, et al. Friedreich's disease: V. Variant form with vitamin E deficiency and normal fat absorption. Neurology 1987;37:68-74.
30. Muller DPR, Matthews S, Harding AE. Serum vitamin E concentrations are normal in Friedreich's ataxia. J Neurol Neurosurg Psychiatry 1987;50:625-627.
31. Burck U, Goebel HH, Kuhlendahl HD, Meier C, Goebel KM. Neuromyopathy and vitamin E deficiency in man. Neuropaediatrics 1981;12:267-278.
32. Laplante P, Vanasse M, Michaud J, Geoffroy G, Brochu P. A progressive neurological syndrome associated with an isolated vitamin E deficiency. Can J Neurol Sci 1984;11:561-564.
33. Yokota T, Wada Y, Furukawa T, Tsukagoshi H, Uchihara T, Watabiki S. Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency. Ann Neurol 1987;22:84-87.
34. Sokol RJ, Kayden HJ, Bettis DB, et al. Isolated vitamin E deficiency in the absence of fat malabsorption - familial and sporadic cases: characterization and investigation of causes. J Lab Clin Med 1987;111:548-559.
35. Traber MG, Sokol RJ, Burton GW, et al. Impaired ability of patients with familial isolated vitamin E deficiency to incorporate α-tocopherol into lipoproteins secreted by the liver. J Clin Invest 1990;85:397-407.
36. Ben Hamida Ch, Doerflinger N, Belal S, et al. Localization of Friedreich ataxia with selective vitamin E deficiency to chromosome 8q by homozygoty mapping. Nature Genetics (in press).