The autosomal recessive cerebellar ataxias

New England Journal of Medicine

Volumn 366, Issue 7, 2012, Pages 636-646

  Anheim, Mathieu ^a,b,c   Tranchant, Christine ^d   Koenig, Michel ^e,f  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^c CNRS   (France)

^d UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^e HÔPITAL CIVIL   (France)

^f UNIVERSITÉ DE STRASBOURG   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; IDEBENONE;

ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN ABSCESS; CEREBELLAR ATAXIA; CEREBROSPINAL FLUID EXAMINATION; CEREBROVASCULAR ACCIDENT; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE ASSOCIATION; DRUG INTOXICATION; EPIDEMIOLOGICAL DATA; FRIEDREICH ATAXIA; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MENINGITIS; MOLECULAR PATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PATIENT ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SPINOCEREBELLAR DEGENERATION; THIAMINE DEFICIENCY; TREATMENT PLANNING;

EID: 84857132924     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMra1006610     Document Type: Review

References (56)

1. Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 2010;9:885-94.
2. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004;3:291-304. (Pubitemid 38510200)
3. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 2007;6:245-57. (Pubitemid 46228080)
4. Anheim M, Fleury M, Monga B, et al. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. Neurogenetics 2010;11:1-12.
5. Campuzano V, Montermini L, MoltòMD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-7. (Pubitemid 26089479)
6. Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335:1169-75. (Pubitemid 26339770)
7. Spieker S, Schulz JB, Petersen D, Fetter M, Klockgether T, Dichgans J. Fixation instability and oculomotor abnormalities in Friedreich's ataxia. J Neurol 1995;242:517-21.
8. Isnard R, Kalotka H, Dürr A, et al. Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia. Circulation 1997;95:2247-9. (Pubitemid 27191000)
9. Savitsky K, Bar-Shira A, Gilad S, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995;268:1749-53.
10. Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst) 2004;3:1187-96. (Pubitemid 38997962)
11. Swift M, Morrell D, Massey RB, Chase CL. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 1991;325:1831-6.
12. Su Y, Swift M. Mortality rates among carriers of ataxia-telangiectasia mutant alleles. Ann Intern Med 2000;133:770-8.
13. Anheim M, Mariani LL, Calvas P, et al. Exonic deletions of FXN cause early-onset Friedreich's ataxia. Arch Neurol (in press).
14. Schöls L, Amoiridis G, Przuntek H, Frank G, Epplen JT, Epplen C. Friedreich's ataxia: revision of the phenotype according to molecular genetics. Brain 1997;120:2131-40. (Pubitemid 28014589)
15. Berciano J, Infante J, García A, Polo JM, Volpini V, Combarros O. Very lateonset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type. Mov Disord 2005;20:1643-5.
16. Montermini L, Richter A, Morgan K, et al. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 1997;41:675-82. (Pubitemid 27212663)
17. Verhagen MM, Abdo WF, Willemsen MA, et al. Clinical spectrum of ataxiatelangiectasia in adulthood. Neurology 2009;73:430-7.
18. Amiel J, Maziere JC, Beucler I, et al. Familial isolated vitamin E deficiency: extensive study of a large family with a 5-year therapeutic follow-up. J Inherit Metab Dis 1995;18:333-40.
19. Kohlschütter A, Hübner C, Jansen W, Lindner SG. A treatable familial neuromyopathy with vitamin E deficiency, normal absorption, and evidence of increased consumption of vitamin E. J Inherit Metab Dis 1988;11:Suppl 2:149-52.
20. Hungerbühler JP, Meier C, Rousselle L, Quadri P, Bogousslavsky J. Refsum's disease: management by diet and plasmapheresis. Eur Neurol 1985;24:153-9. (Pubitemid 15103684)
21. Jansen GA, Wanders RJ, Watkins PA, Mihalik SJ. Phytanoyl-coenzyme A hydroxylase deficiency - the enzyme defect in Refsum's disease. N Engl J Med 1997;337:133-4. (Pubitemid 27284405)
22. Sharp D, Blinderman L, Combs KA, et al. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature 1993;365:65-9. (Pubitemid 23305570)
23. Muller DP, Lloyd JK. Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia. Ann N Y Acad Sci 1982;393:133-44. (Pubitemid 13206903)
24. Auré K, Benoist JF, Ogier de Baulny H, Romero NB, Rigal O, Lombès A. Progression despite replacement of a myopathic form of coenzyme Q10 defect. Neurology 2004;63:727-9. (Pubitemid 39100837)
25. Anheim M, Monga B, Fleury M, et al. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain 2009;132:2688-98.
26. Stray-Pedersen A, Borresen-Dale AL, Paus E, Lindman CR, Burgers T, Abrahamsen TG. Alpha fetoprotein is increasing with age in ataxia- telangiectasia. Eur J Paediatr Neurol 2007;11:375-80. (Pubitemid 47534999)
27. Anheim M, Fleury MC, Franques J, et al. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. Arch Neurol 2008;65:958-62. (Pubitemid 352008481)
28. Moreira MC, Barbot C, Tachi N, et al. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet 2001;29:189-93. (Pubitemid 32952657)
29. Le Ber I, Moreira MC, Rivaud-Péchoux S, et al. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain 2003;126:2761-72. (Pubitemid 37463094)
30. Tranchant C, Fleury M, Moreira MC, Koenig M, Warter JM. Phenotypic variability of aprataxin gene mutations. Neurology 2003;60:868-70. (Pubitemid 36297377)
31. Takashima H, Boerkoel CF, John J, et al. Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet 2002;32:267-72.
32. Tzoulis C, Engelsen BA, Telstad W, et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 2006;129:1685-92. (Pubitemid 43999403)
33. Lagier-Tourenne C, Tazir M, López LC, et al. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet 2008;82:661-72. (Pubitemid 351735958)
34. Schulz JB, Boesch S, Bürk K, et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol 2009;5:222-34.
35. Mascalchi M, Salvi F, Piacentini S, Bartolozzi C. Friedreich's ataxia: MR findings involving the cervical portion of the spinal cord. AJR Am J Roentgenol 1994;163:187-91. (Pubitemid 24225713)
36. Mollet J, Delahodde A, Serre V, et al. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet 2008;82:623-30. (Pubitemid 351735957)
37. Cossée M, Schmitt M, Campuzano V, et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci U S A 1997;94:7452-7.
38. Anheim M, Chaigne D, Fleury M, et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature. Rev Neurol (Paris) 2008;164:363-8. (In French.) (Pubitemid 351893080)
39. Vermeer S, Meijer RP, Pijl BJ, et al. ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. Neurogenetics 2008;9:207-14. [Erratum, Neurogenetics 2009;10:87.]
40. Engert JC, Bérubé P, Mercier J, et al. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000;24:120-5. (Pubitemid 30094710)
41. Tazir M, Ali-Pacha L, M'Zahem A, et al. Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. J Neurol Sci 2009;278:77-81.
42. Stewart GS, Maser RS, Stankovic T, et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 1999;99:577-87. (Pubitemid 30004634)
43. Gros-Louis F, Dupré N, Dion P, et al. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet 2007;39:80-5. (Pubitemid 46026505)
44. Dupré N, Gros-Louis F, Chrestian N, et al. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol 2007;62:93-8. (Pubitemid 47235284)
45. Assoum M, Salih MA, Drouot N, et al. Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. Brain 2010;133:2439-47.
46. Fiskerstrand T, H'Mida-Ben Brahim D, Johansson S, et al. Mutations in ABHD12 cause the neurodegenerative disease PHARC: an inborn error of endocannabinoid metabolism. Am J Hum Genet 2010;87:410-7.
47. Vermeer S, Hoischen A, Meijer RP, et al. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal- recessive cerebellar ataxia. Am J Hum Genet 2010;87:813-9.
48. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983;1:1151-5. (Pubitemid 13084682)
49. Seznec H, Simon D, Bouton C, et al. Friedreich ataxia: the oxidative stress paradox. Hum Mol Genet 2005;14:463-74. (Pubitemid 40277462)
50. Schmucker S, Martelli A, Colin F, et al. Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex. PLoS ONE 2011;6(1):e16199.
51. Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, Sidi D, Munnich A, Rötig A. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet 1999;354:477-9. (Pubitemid 29368927)
52. Di Prospero NA, Baker A, Jeffries N, Fischbeck KH. Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurol 2007;6:878-86. (Pubitemid 47404985)
53. Mariotti C, Solari A, Torta D, Marano L, Fiorentini C, Di Donato S. Idebenone treatment in Friedreich patients: oneyear- long randomized placebo-controlled trial. Neurology 2003;60:1676-9. (Pubitemid 36618100)
54. Lagedrost SJ, Sutton MS, Cohen MS, et al. Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA). Am Heart J; 161(3):639.e1-645.e1.
55. Lynch DR, Perlman SL, Meier T. A phase 3, double-blind, placebo-controlled trial of idebenone in Friedreich ataxia. Arch Neurol 2010;67:941-7.
56. Kearney M, Orrell RW, Fahey M, Pandolfo M. Antioxidants and other pharmacological treatments for Friedreich ataxia. Cochrane Database Syst Rev 2009;(4):CD007791.