Uncommon features in Cuban families affected with Friedreich ataxia

Neuroscience Letters

Volumn 472, Issue 2, 2010, Pages 85-89

  Cruz Mariño, Tania ^a   González Zaldivar, Yanetza ^b   Laffita Mesa, Jose Miguel ^b   Almaguer Mederos, Luis ^b   Aguilera Rodríguez, Raul ^b   Almaguer Gotay, Dennis ^b   Rodríguez Labrada, Roberto ^b   Canales Ochoa, Nalia ^b   MacLeod, Patrick ^c   Velázquez Pérez, Luis ^b  

^a Center of Medical Genetics and Primary Health Care   (Armenia)

^b Centro para la Investigacion y Rehabilitacion de las Ataxias Hereditarias Cuba   (Cuba)

^c Laboratory Medicine and Medical Gentics   (Canada)

Author keywords

Case report; Friedreich ataxia; Molecular diagnosis; Recessive ataxia

Indexed keywords

FRATAXIN;

ADULT; ANAMNESIS; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME ABERRATION; CLINICAL FEATURE; CUBA; DIAGNOSTIC VALUE; EVOKED BRAIN STEM AUDITORY RESPONSE; EXTENSION GENE; FAMILY STUDY; FEMALE; FRIEDREICH ATAXIA; GENETIC ANALYSIS; GENOMIC INSTABILITY; HUMAN; MALE; MOLECULAR GENETICS; NEUROPATHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCOLIOSIS; SPONTANEOUS ABORTION;

ADOLESCENT; ADULT; CUBA; FEMALE; FRIEDREICH ATAXIA; HUMANS; IRON-BINDING PROTEINS; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; PEDIGREE; TRINUCLEOTIDE REPEAT EXPANSION; YOUNG ADULT;

EID: 77349097532     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2010.01.045     Document Type: Article

References (45)

1. Arosson D.D., Stokes I.A.F., Ronchetti P.J., and Labelle H.B. Comparison of curve shape between children with cerebral palsy, Friedreich ataxia, and adolescent idiopathic scoliosis. Dev. Med. Child Neurol. 36 (1994) 412-418
2. Cady R.B., and Bobechko W.P. Incidence, natural history, and treatment of scoliosis in Friedreich's ataxia. J. Pediatr. Orthop. 4 (1984) 673-676
3. Chakravarty A. Friedreich's ataxia-yesterday, today and tomorrow. Neurol. India 51 (2003) 176-182
4. Cheng J.C., Guo X., Sher A.H., Chan Y.L., and Metreweli C. Correlation between curve severity, somatosensory evoked potentials, and magnetic resonance imaging in adolescent idiopathic scoliosis. Spine [Spine (Phila Pa 1976)] 24 (1999) 1679-1684
5. Fantus I.G., Janjua N., Senni H., and Anderman E. Glucose tolerance in first degree relatives of patients with Friedreich's ataxia is associated with insulin resistance: evidence for a closely linked inherited trait. Metabolism 40 (1991) 788-793
6. Filla A., De Michele G., Cavalcanti F., Pianese L., Monticelli A., Campanella G., and Cocozza S. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am. J. Hum. Genet. 59 (1996) 554-560
7. Fortuna F., Barboni P., Liguori R., Valentino M.L., Savini G., Gellera C., Mariotti C., Rizzo G., Tonon C., Manners D., Lodi R., Sadun A.A., and Carelli V. Visual system involvement in patients with Friedreich's ataxia. Brain 132 (2009) 116-123
8. Friedreich N. Ueber degenerative Atrophie der spinalen Hinterstrange. Virchows Arch. Pathol. Anat. Physiol. Klin. Med. 26 (1863) 391-419
9. Geoffroy G., Barbeau A., Breton G., Lemieux B., Aube M., Leger C., and Bouchard J.P. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can. J. Neurol. Sci. 3 (1976) 279-286
10. Hanis C.L., Boerwinkle E., Chakraborty R., Ellsworth D.L., Concannon P., Stirling B., Morrison V.A., Wapelhorst B., Spielman R.S., Gogolin-Ewens K.J., Shepard J.M., Williams S.R., Risch N., Hinds D., Iwasaki N., Ogata M., Omori Y., Petzold C., Rietzch H., Schroder H.E., Schulze J., Cox N.J., Menzel S., Boriraj V.V., Chen X., Lim L.R., Lindner T., Mereu L.E., Wang Y.Q., Xiang K., Yamagata K., Yang Y., and Bell G.I. A genome-wide search for human non-insulin-dependent (type2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat. Genet. 13 (1996) 161-166
11. Harding A.E. 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 104 (1981) 589-620
12. Hausse A.O., Aggoun Y., Bonnet D., Sidi D., Munnich A., Rotig A., and Rustin P. Idebenone and reduced cardiac hypertrophy in Friedreichs ataxia. Heart 87 (2002) 346-349
13. Hebinck J., Hardtt C., Schols L., Vorgerd M., Briedigkeit L., Kahn C.R., and Ristow M. Heterozygous expansion or the GAA tract or the X25/Frataxin gene is associated with insulin resistance in humans. Diabetes 49 (2000) 1604-1607
14. Holmkvist J., Almgren P., Parikh H., Zucchelli M., Kere J., and Lindgren C.M. Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes. Eur. J. Hum. Genet. 13 (2005) 849-855
15. Kosutic J., and Zamurovic D. High-dosebeta-blocker hypertrophic card iomyopathy therapy in a patient with Friedreich ataxia. Pediatr. Cardiol. 26 (2005) 727-730
16. Leone M., Brignolio F., Rosso M.G., Curtoni E.S., Moroni A., Tribolo A., and Schiffer D. Friedreichs ataxia: a descriptive epidemiological study in an Italian population. Clin. Genet. 38 (1990) 161-169
17. Lindgren C.M., Mahtani M.M., Widen E., McCarthy M.I., Daly M.J., Kirby A., Reeve M.P., Kruglyak L., Parker A., Meyer J., Almgren P., Lehto M., Kanninen T., Tuomi T., Groop L.C., and Lander E.S. Genome wide search for type 2 diabetes mellitus susceptibility loci in Finnish families: the Botnia study. Am. J. Hum. Genet. 70 (2002) 509-516
18. Loesch D.Z., and Hay D.A. Clinical features and reproductive patterns in fragile X female heterozygotes. J. Med. Genet. 25 (1988) 407-414
19. Luo T.H., Zhao Y., Li G., Yuan W.T., Zhao J.J., Chen J.L., Huang W., and Luo M. A genome-wide search for type II diabetes susceptibility genes in Chinese Hans. Diabetologia 44 (2001) 501-506
20. Mahaudens P., Detrembleur C., Mousny M., and Banse X. Gait in adolescent idiopathic scoliosis: energy cost analysis. Eur. Spine J. 18 (2009) 1160-1168
21. Michael S., Petrocine S., Qian J., Lamarche J.B., Garrick M., Koeppen A., and Knutson M.D. Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia. The Cerebellum 5 (2006) 257-267
22. Milbrandt T.A., Kunes J.R., and Karol L.A. Friedreich's ataxia and scoliosis: the experience at two institutions. J. Pediatr. Orthop. 28 2 (2008) 234-238
23. Pandolfo M. Friedreich ataxia: the clinical picture. J. Neurol. 256 1 (2009) 3-8
24. Pandolfo M., and Pastore A. The pathogenesis of Friedreich ataxia and the structure and function of frataxin. J. Neurol. 256 1 (2009) 9-17
25. Pratley R.E., Thompson D.B., Prochazka M., Baier L., Mott D., Ravussin E., Sakul H., Ehm M.G., Burns D.K., Foroud T., Garvey W.T., Hanson R.L., Knowler W.C., Bennett P.H., and Bogardus C. An autosomal genomic scan for loci linked to prediabetic phenotypes in Pima Indians. J. Clin. Invest. 101 (1998) 1757-1764
26. Ribai P., Pousset F., Tanguy M.L., Rivaud-Pechoux S., LeBer I., Gasparini F., Charles P., Béraud A.S., Schmitt M., Koenig M., Mallet A., Brice A., and Durr A. Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Arch. Neurol. 64 (2007) 558-564
27. Rinsky L.A., and Gamble J.G. Adolescent idiopathic scoliosis. West J. Med. 148 (1988) 182-191
28. Ristow M. Neurodegenerative disorders associated with diabetes mellitus. J. Mol. Med. 82 (2004) 510-529
29. Ristow M., Gionnakidon E., Hebinck J., Busch K., Vorgerd M., Kotzka J., Knebel B., Mueller-Berghaus J., Epplen C., Pfeiffer A., Kahn C.R., Doria A., Krone W., and Mueller-Wieland D. An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/Fratacin (Friedreich's ataxia) gene. Diabetes 47 (1998) 851-854
30. Ristow M., Mulder H., Pomplun D., Schulz T.J., Muller-Schmehl K., Krause A., Fex M., Puccio H., Muller J., Isken F., Spranger J., Muller-Wieland D., Magnuson M.A., Mohlig M., Koenig M., and Pfeiffer A.F. Frataxin-deficiency in pancreatic islets causes diabetes due to loss of beta-cell mass. J. Clin. Invest. 112 (2003) 527-534
31. Romeo G., Menozzi P., Ferlini A., Fadda S., Di Donato S., Uziel G., and Lucci B. Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages. Am. J. Hum. Genet. 35 (1983) 523-529
32. Rotig A., de Lonlay P., Chreiten D., Foury F., Koenig M., Sidi D., Munnich A., and Rustin P. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat. Genet. 17 (1997) 215-217
33. Rudnik-Schöneborn S., Schneider-Gold C., Raabe U., Kress W., Zerres K., and Schoser B.G.H. Outcome and effect of pregnancy in myotonic dystrophy type 2. Neurology 66 (2006) 579-580
34. Rustin P., Vonkleist-Retzow J.C., Chantrel-Groussard K., Sidi D., and Munnicha A. Effect of Idebenone on cardiomiopathy in Friedreichs ataxia: a preliminary study. Lancet 354 (1999) 477-479
35. Santiago-Pérez S., Pérez-Conde M.C., Ugalde-Canitrot A., and López-Pajares M.R. Estudio neurofisiológico de las alteraciones del sistema nervioso central y periférico en la ataxia de Friedreich. Rev. Neurol. 44 (2007) 193-197
36. Schmitz-Hubsch T., Tezenas du Montcel S., Baliko L., Berciano J., Boesch S., Depondt C., Giunti P., Globas C., Infante J., Kang J.S., Kremer B., Mariotti C., Melegh B., Pandolfo M., Rakowicz M., Ribai P., Rola R., Schöls L., Szymanski S., van de Warrenburg B.P., Dürr A., Klockgether T., and Fancellu R. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 66 (2006) 1717-1720
37. Schulz J.B., Dehmert T., Schols L., Mende H., Hardt C., Vorgerd M., Burk K., Matson W., Dichgans J., Beal M.F., and Bogdanov M.B. Oxidative stress in patients with Friedreich ataxia. Neurology 55 (2000) 1719-1721
38. Seznec H., Simon D., and Bouton C. Friedreich ataxia: the oxidative stress paradox. Hum. Mol. Genet. 14 (2005) 463-474
39. Skre H. Epidemiology of spinocerebellar degeneration in western Norway. Hereditary Diseases (1980), Univ. of Tokyo Press, Tokyo pp. 103
40. Terracciano A., Pomponi M.G., Marino G.M.E., Chiurazzi P., Rinaldi M.M., Dobosz M., and Néri G. Expansion to full mutation of a FMR1 intermediate allele over two generations. Eur. J. Hum. Genet. 12 (2004) 333-336
41. Tolis G., Mehta A., Anderman E., Harvey C., and Barbeau A. Friedreich's ataxia and oral glucose tolerance: the effect of ingested glucose on serum glucose and insulin values in homozygotes, obligate heterozygotes and potential carriers of the Friedreich's ataxia gene. Can. J. Sci. Neurol. 7 (1980) 397-400
42. Trouillas P., Takayanagi T., Hallett M., Currier R., Subramony S., and Wessel K. International cooperative ataxia rating scale for pharmacological assessment of the cerebellar syndrome. J. Neurol. Sci. 145 (1997) 205-211
43. Velázquez-Pérez L., Sánchez-Cruz G., Canales-Ochoa N., Rodríguez-Labrada R., Rodríguez-Díaz J.C., Almaguer-Mederos L.E., and Laffita-Mesa J.M. Electrophysiological features in patients and presymptomatic relatives with spinocerebellar ataxia type 2. J. Neurol. Sci. 263 (2007) 158-164
44. Velázquez-Pérez L., Sánchez-Cruz G., Santos-Falcón N., Almaguer-Mederos L.E., Escalona-Batallan K., Rodríguez-Labrada R., Paneque-Herrera M., Laffita-Mesa J.M., Rodríguez-Díaz J.C., Aguilera-Rodríguez R., González-Zaldivar Y., Coello-Almarales D., Almaguer-Gotay D., and Jorge-Cedeño H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguín. Neurosci. Lett. 454 (2009) 157-160
45. Yoon T., and Cowan J.A. Iron-sulfur cluster biosynthesis: characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins. J. Am. Chem. Soc. 125 (2003) 6078-6084