Pediatric Neurology
Volume 28, Issue 5 , Pages 335-341 , May 2003

Friedreich’s ataxia

  • Gulay Alper, MD

      Affiliations

    • Division of Child Neurology, Department of Pediatrics, Children’s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
    • Corresponding Author InformationCommunications should be addressed to: Dr. Alper; Division of Child Neurology, Children’s Hospital of Pittsburgh; 3705 Fifth Avenue; Pittsburgh, PA 15213, USA.
    • ,
  • Vinodh Narayanan, MD

      Affiliations

    • Division of Child Neurology, Department of Pediatrics, Neurology, and Neurobiology, Children’s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA

Received 26 September 2002 ,Accepted 10 December 2002.

References 

  1. Pandolfo M. Molecular pathogenesis of Friedreich ataxia. Arch Neurol. 1999;56:1201–1208
  2. Geoffroy G, Barbeau A, Breton G, et al.  Clinical description and roentgenologic evaluation of patients with Friedreich ataxia. Can J Neurol Sci. 1976;3:279–286
  3. 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
  4. Evidente VGH, Gwinn-Hardy KA, Caviness JN, Gilman S. Hereditary ataxias. Mayo Clin Proc. 2000;75:475–490
  5. Campuzano V, Montermini L, Molto MD, et al.  Friedreich’s ataxia (Autosomal recessive disease caused by an intronic GAA triplet repeat expansion). Science. 1996;271:1423–1427
  6. Pandolfo M, Montermini L. Molecular genetics of the hereditary ataxias. Adv Genet. 1998;38:31–68
  7. Delatcycki MB, Williamson MB, Forrest SM. Friedreich ataxia (An overview). J Med Genet. 2000;37:1–8
  8. Pandolfo M, Montermini L. Prenatal diagnosis of Friedreich Ataxia. Prenat Diagn. 1998;18:831–833
  9. Filla A, De Michele G, Cavalcanti F, et al.  The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet. 1996;59:554–560
  10. Epplen C, Epplen JT, Frank G, Miterski B, Santos EJM, Schols L. Differential stability of the (GAA)n tract in Friedreich ataxia (STM7) gene. Hum Genet. 1997;99:834–836
  11. Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol. 1993;61:1–14
  12. Montermini L, Richter A, Morgan K, et al.  Phenotypic variability in Friedreich ataxia (Role of the associated GAA triplet repeat expansion). Ann Neurol. 1997;41:675–682
  13. Koenig M. Friedreich ataxia and AVED. In: Scriver CR, Beaudet AL, Sly WS, editors. The metabolic and molecular bases of inherited disease, 8th ed. New York, McGraw-Hill. 2001:5845-55
  14. Durr A, Cossee M, Agid Y, et al.  Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med. 1996;335:1169–1175
  15. Delatycki M, Paris DBBP, Gardner RJM, et al.  Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet. 1999;87:168–174
  16. Schols L, Amoiridis G, Przuntek H, Frank G, Epplen JT, Epplen C. Friedreich’s ataxia (Revision of phenotype according to molecular genetics). Brain. 1997;120:2131–2140
  17. De Michele G, Filla A, Cavalcanti F, et al.  Late onset Friedreich’s disease (Clinical features and mapping of mutation to the FRDA locus). J Neurol Neurosurg Psychiatry. 1994;57:977–979
  18. Palau F, De Michele G, Vilchez JJ, et al.  Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich’s ataxia locus on chromosome 9q. Ann Neurol. 1995;37:359–362
  19. Klockgether T, Zuhlke C, Schulz JB, et al.  Friedreich’s ataxia with retained tendon reflexes (Molecular genetics, clinical neurophysiology, and magnetic resonance imaging). Neurology. 1996;46:118–121
  20. Keats BJB, Ward LJ, Shaw J, Wickremasinghe A, Chamberlain S. “Acadian” and “classical” forms of Friedreich ataxia are probably caused by mutations at the same locus. Am J Med Genet. 1989;33:266–268
  21. Lamarche JB, Lemieux B, Lieu HB. The neuropathology of “typical” Friedreich’s ataxia in Quebec. Can J Neurol Sci. 1984;11(Suppl. 4):592–600
  22. Said G, Marion MH, Selva J, Jamet C. Hypotrophic and dying-back nerve fibers in Friedreich’s ataxia. Neurology. 1986;36:1292–1299
  23. Priller J, Scherzer R, Faber PW, MacDonald ME, Young AB. Frataxin gene of Friedreich ataxia is targeted to mitochondria. Ann Neurol. 1997;42:265–269
  24. Santoro L, De Michele G, Peretti A, et al.  Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich’s ataxia. J Neurol Neurosurg Psychiatry. 1999;66:93–96
  25. Jitpimolmard S, Small J, King RHM, et al.  The sensory neuropathy of Friedreich’s ataxia (An autopsy study of a case with prolonged survival). Acta Neuropathol. 1993;86:29–35
  26. Chamberlain S, Shaw J, Rowland A, et al.  Mapping of mutation causing Friedreich’s ataxia to human chromosome 9. Nature. 1988;334:248–250
  27. Fujita R, Agid Y, Trouillas P, et al.  Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. Genomics. 1989;4:110–111
  28. Pandolfo M, Sirugo G, Antonelli A, et al.  Friedreich ataxia in Italian families (Genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15). Am J Hum Genet. 1990;47:228–235
  29. Chamberlain S, Farrall M, Shaw J, et al.  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
  30. Cossee M, Durr A, Scmitt M, et al.  Friedreich’s ataxia (Point mutations and clinical presentations of compound heterozygotes). Ann Neurol. 1999;45:200–206
  31. Bidichandani SI, Ashizawa T, Patel PI. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet. 1998;62:111–121
  32. Sakamato N, Chastain PD, Parniewski P, et al.  Sticky DNA (Self-association properties of long GAA TTC repeats in RR Y triplex structures from Friedreich’s ataxia). Mol Cell. 1999;3:465–475
  33. Forrest SM, Knight M, Delatcyki M, et al.  The correlation of clinical phenotype with the site of point mutations in FRDA gene. Neurogenetics. 1998;1:253–257
  34. Ragno W, De Michele G, Cavalcanti F, et al.  Broadened Friedreich’s ataxia phenotype after gene cloning. Neurology. 1997;49:1617–1620
  35. Lodi R, Cooper JM, Bradley JL, et al.  Deficit of in vivo mitochondrial ATP production in patients with Friedreich’s ataxia. Proc Natl Acad Sci. 1999;96:11492–11495
  36. Puccio H, Koenig M. Recent advances in the molecular pathogenesis of Friedreich ataxia. Hum Mol Gen. 2000;9:887–892
  37. Babcock M, de Silva D, Oaks R, et al.  Regulation of mitochondrial iron accumulation by Yfh 1p, a putative homolog of frataxin. Science. 1997;276:1709–1712
  38. Delatycki M, Camakaris M, Brooks H, et al.  Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia. Ann Neurol. 1999;45:673–675
  39. Rotig A, de Lonlay P, Chretien D, et al.  Aconitase and mitochondrial iron-sulfur protein deficiency in Friedreich ataxia. Nat Genet. 1997;17:215–217
  40. Bradley JL, Blake JC, Chamberlain S, Thomas PK, Cooper JM, Schapira AH. Clinical, biochemical and molecular genetic correlations in Friedreich’s ataxia. Hum Mol Gen. 2000;9:275–282
  41. Puccio H, Simon D, Cossee M, et al.  Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet. 2001;27:181–186
  42. Koutnikova H, Campuzano V, Foury F, Dolle P, Cazzalini O, Koenig M. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet. 1997;16:345–351
  43. Wilson RB, Lynch DR, Fischbeck KH. Normal serum iron and ferritin concentrations in patients with Friedreich’s ataxia. Ann Neurol. 1998;44:132–134
  44. Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, Sidi D, Munnich A, Rotig A. Effect on idebenone on cardiomyopathy in Friedreich’s ataxia (A preliminary study). Lancet. 1999;354:477–479
  45. Rustin P, Rotig A, Munnich A, Sidi D. Heart hypertrophy and function are improved by idebenone in Friedreich’s ataxia. Free Radic Res. 2002;36:467–469
  46. Lodi R, Hart PE, Rajagopolan B, et al.  Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich’s ataxia. Ann Neurol. 2001;49:590–596
  47. Lodi R, Rajagopolan B, Bradley JL, et al.  Mitochondrial dysfunction in Fredreich’s ataxia (From pathogenesis to treatment perspectives). Free Radic Res. 2002;36:461–466

PII: S0887-8994(03)00004-3

doi: 10.1016/S0887-8994(03)00004-3

Pediatric Neurology
Volume 28, Issue 5 , Pages 335-341 , May 2003

Article Tools

* Image Usage & Resolution