Friedreich ataxia in Norway - An epidemiological, molecular and clinical study Rare neurological diseases

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages 1-17

  Wedding, Iselin Marie ^a,b   Kroken, Mette ^a   Henriksen, Sandra Pilar ^a   Selmer, Kaja Kristine ^a,b   Fiskerstrand, Torunn ^c,d   Knappskog, Per Morten ^c,d   Berge, Tone ^a   Tallaksen, Chantal Me ^a,b  

^a ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

^c UNIVERSITY OF BERGEN   (Norway)

^d HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

Ataxia; Autosomal recessive; Frataxin; FRDA; Friedreich ataxia; Norway

Indexed keywords

AGE DISTRIBUTION; ARTICLE; CLINICAL ARTICLE; CROSS-SECTIONAL STUDY; DISEASE DURATION; ETHNIC GROUP; EXON; FEMALE; FRIEDREICH ATAXIA; FXN GENE; GENE; GENE DELETION; GENE FREQUENCY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; NORWAY; NORWEGIAN; PHENOTYPE; POPULATION RESEARCH; PREVALENCE; CASE CONTROL STUDY; GENETICS; HETEROZYGOTE DETECTION; PATHOLOGY;

CASE-CONTROL STUDIES; CROSS-SECTIONAL STUDIES; FRIEDREICH ATAXIA; HETEROZYGOTE DETECTION; HUMANS; NORWAY;

EID: 84940649937     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0328-4     Document Type: Article

References (67)

1. Bidichandani SI, Delatycki MB. Friedreich Ataxia. Pagon R, Adam M, HH A, editors. Seattle, USA: University of Washington, Seattle; 1998 (Updated 2014 Jul 24).
2. Pandolfo M. Friedreich ataxia: the clinical picture. J Neurol. 2009;256 Suppl 1:3-8. doi: 10.1007/s00415-009-1002-3.
3. Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med. 1996;335(16):1169-75. doi: 10.1056/nejm199610173351601.
4. Parkinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P. Clinical features of Friedreich's ataxia: classical and atypical phenotypes. J Neurochem. 2013;126 Suppl 1:103-17. doi: 10.1111/jnc.12317.
5. Koeppen AH, Mazurkiewicz JE. Friedreich ataxia: neuropathology revised. J Neuropathol Exp Neurol. 2013;72(2):78-90. doi: 10.1097/NEN.0b013e31827e5762.
6. 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(3):589-620.
7. Labuda M, Labuda D, Miranda C, Poirier J, Soong BW, Barucha NE, et al. Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion. Neurology. 2000;54(12):2322-4.
8. Skre H. Friedreich's ataxia in Western Norway. Clin Genet. 1975;7(4):287-98.
9. Koht J, Tallaksen CM. Cerebellar ataxia in the eastern and southern parts of Norway. Acta Neurol Scand Suppl. 2007;187:76-9. doi: 10.1111/j.1600-0404.2007.00853.x.
10. Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM. Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain. 2009;132(Pt 6):1577-88. doi: 10.1093/brain/awp056.
11. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271(5254):1423-7.
12. Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain. 2006;129(Pt 7):1685-92. doi: 10.1093/brain/awl097.
13. Vankan P. Prevalence gradients of Friedreich's ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge. J Neurochem. 2013;126 Suppl 1:11-20. doi: 10.1111/jnc.12215.
14. 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(Pt 4):673-80.
15. Cossee M, Durr A, Schmitt M, Dahl N, Trouillas P, Allinson P, et al. Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol. 1999;45(2):200-6.
16. Zuhlke CH, Dalski A, Habeck M, Straube K, Hedrich K, Hoeltzenbein M, et al. Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations. Eur J Hum Genet. 2004;12(11):979-82. doi: 10.1038/sj.ejhg.5201257.
17. Anheim M, Mariani LL, Calvas P, Cheuret E, Zagnoli F, Odent S, et al. Exonic deletions of FXN and early-onset Friedreich ataxia. Arch Neurol. 2012;69(7):912-6. doi: 10.1001/archneurol.2011.834.
18. Pastore A, Puccio H. Frataxin: a protein in search for a function. J Neurochem. 2013;126 Suppl 1:43-52. doi: 10.1111/jnc.12220.
19. Matilla-Duenas A, Ashizawa T, Brice A, Magri S, McFarland KN, Pandolfo M, et al. Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum (London, England). 2014;13(2):269-302. doi: 10.1007/s12311-013-0539-y.
20. Nachbauer W, Wanschitz J, Steinkellner H, Eigentler A, Sturm B, Hufler K, et al. Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia. Mov Disord. 2011;26(10):1935-8. doi: 10.1002/mds.23789.
21. Deutsch EC, Santani AB, Perlman SL, Farmer JM, Stolle CA, Marusich MF, et al. A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia. Mol Genet Metab. 2010;101(2-3):238-45. doi: 10.1016/j.ymgme.2010.07.001.
22. Deutsch EC, Oglesbee D, Greeley NR, Lynch DR. Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia. J Neurol Neurosurg Psychiatry. 2014;85(9):994-1002. doi: 10.1136/jnnp-2013-306788.
23. Pandolfo M. Molecular basis of Friedreich ataxia. Mov Disord. 2001;16(5):815-21.
24. Pandolfo M. Friedreich ataxia. Handb Clin Neurol. 2012;103:275-94. doi: 10.1016/b978-0-444-51892-7.00017-6.
25. Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castellotti B, et al. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol. 1997;41(5):675-82. doi: 10.1002/ana.410410518.
26. Cossee M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci U S A. 1997;94(14):7452-7.
27. Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, et al. The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet. 1997;6(8):1261-6.
28. Statistics Norway. www.ssb.no. Accessed 30 November 2014.
29. Tallaksen CME, Dürr A. SPATAX- European Network for Hereditary Spinocerebellar Degenerative Disorders. Acta Neurol Scand. 2003;107(6):432-3. doi: 10.1034/j.1600-0404.2003.00125-18.x.
30. SPATAX Network. https://spatax.wordpress.com. Accessed 01 January 2013.
31. Schmitz-Hubsch T, du Montcel S, Baliko L, Berciano J, Boesch S, Depondt C. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66:1717-20.
32. Ciotti P, Di Maria E, Bellone E, Ajmar F, Mandich P. Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia. J Mol Diagn. 2004;6(4):285-9. doi: 10.1016/s1525-1578(10)60523-5.
33. Pandolfo M. Friedreich ataxia: Detection of GAA repeat expansions and frataxin point mutations. Methods Mol Med. 2006;126:197-216. doi: 10.1385/1-59745-088-x:197.
34. Schols 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(Pt 12):2131-40.
35. Willis JH, Isaya G, Gakh O, Capaldi RA, Marusich MF. Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers. Mol Genet Metab. 2008;94(4):491-7. doi: 10.1016/j.ymgme.2008.03.019.
36. Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, et al. Multi-system neurological disease is common in patients with OPA1 mutations. Brain. 2010;133(Pt 3):771-86. doi: 10.1093/brain/awq007.
37. Filla A, DeMichele G, Caruso G, Marconi R, Campanella G. Genetic data and natural history of Friedreich's disease: a study of 80 Italian patients. J Neurol. 1990;237(6):345-51.
38. Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, et al. Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet. 1999;87(2):168-74.
39. McCabe DJ, Ryan F, Moore DP, McQuaid S, King MD, Kelly A, et al. Typical Friedreich's ataxia without GAA expansions and GAA expansion without typical Friedreich's ataxia. J Neurol. 2000;247(5):346-55.
40. Salehi MH, Houshmand M, Aryani O, Kamalidehghan B, Khalili E. Molecular and clinical investigation of Iranian patients with Friedreich ataxia. Iran Biomed J. 2014;18(1):28-33.
41. Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, et al. Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data. Lancet Neurol. 2015;14(2):174-82. doi: 10.1016/s1474-4422(14)70321-7.
42. Jonasson J, Juvonen V, Sistonen P, Ignatius J, Johansson D, Bjorck EJ, et al. Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. Eur J Hum Genet. 2000;8(12):918-22. doi: 10.1038/sj.ejhg.5200557.
43. Juvonen V, Kulmala SM, Ignatius J, Penttinen M, Savontaus ML. Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland. Hum Genet. 2002;110(1):36-40. doi: 10.1007/s00439-001-0642-x.
44. Dupuy BM, Stenersen M, Lu TT, Olaisen B. Geographical heterogeneity of Y-chromosomal lineages in Norway. Forensic Sci Int. 2006;164(1):10-9. doi: 10.1016/j.forsciint.2005.11.009.
45. Gedde-Dahl Jr T. Population structure in Norway. Inbreeding, distance and kinship. Hereditas. 1973;73(2):211-32.
46. Saugstad LF. Inbreeding in Norway. Ann Hum Genet. 1977;40(4):481-91.
47. Surén P, Grjibovski A, Stoltenberg C. Inngifte i Norge. Omfang og medisinske konsekvenser. Oslo: Norwegian Institute of Public Health; 2007.
48. Saugstad LF. The relationship between inbreeding, migration and population density in Norway. Ann Hum Genet. 1977;40(3):331-41.
49. Burk K, Malzig U, Wolf S, Heck S, Dimitriadis K, Schmitz-Hubsch T, et al. Comparison of three clinical rating scales in Friedreich ataxia (FRDA). Mov Disord. 2009;24(12):1779-84. doi: 10.1002/mds.22660.
50. Silva CB, Yasuda CL, D'Abreu A, Cendes F, Lopes-Cendes I, Franca Jr MC. Neuroanatomical correlates of depression in Friedreich's ataxia: a voxel-based morphometry study. Cerebellum. 2013;12(3):429-36. doi: 10.1007/s12311-012-0424-0.
51. Lagedrost SJ, Sutton MS, Cohen MS, Satou GM, Kaufman BD, Perlman SL, et al. Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA). Am Heart J. 2011;161(3):639-45.e1. doi: 10.1016/j.ahj.2010.10.038.
52. Meier T, Perlman SL, Rummey C, Coppard NJ, Lynch DR. Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study. J Neurol. 2012;259(2):284-91. doi: 10.1007/s00415-011-6174-y.
53. Tsou AY, Paulsen EK, Lagedrost SJ, Perlman SL, Mathews KD, Wilmot GR, et al. Mortality in Friedreich ataxia. J Neurol Sci. 2011;307(1-2):46-9. doi: 10.1016/j.jns.2011.05.023.
54. Wilson CL, Fahey MC, Corben LA, Collins VR, Churchyard AJ, Lamont PJ, et al. Quality of life in Friedreich ataxia: what clinical, social and demographic factors are important? Eur J Neurol. 2007;14(9):1040-7. doi: 10.1111/j.1468-1331.2007.01881.x.
55. Coppola G, De Michele G, Cavalcanti F, Pianese L, Perretti A, Santoro L, et al. Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study. J Neurol. 1999;246(5):353-7.
56. Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet. 1996;59(3):554-60.
57. Ohshima K, Sakamoto N, Labuda M, Poirier J, Moseley ML, Montermini L, et al. A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis. Neurology. 1999;53(8):1854-7.
58. Sacca F, Puorro G, Antenora A, Marsili A, Denaro A, Piro R, et al. A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design. PLoS One. 2011;6(3), e17627. doi: 10.1371/journal.pone.0017627.
59. Xia H, Cao Y, Dai X, Marelja Z, Zhou D, Mo R, et al. Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia. PLoS One. 2012;7(10), e47847. doi: 10.1371/journal.pone.0047847.
60. De Michele G, Filla A. Movement disorders: Friedreich ataxia today-preparing for the final battle. Nat Rev Neurol. 2015;11(4):188-90. doi: 10.1038/nrneurol.2015.33.
61. Boehm T, Scheiber-Mojdehkar B, Kluge B, Goldenberg H, Laccone F, Sturm B. Variations of frataxin protein levels in normal individuals. Neurol Sci. 2011;32(2):327-30. doi: 10.1007/s10072-010-0326-1.
62. Sacca F, Marsili A, Puorro G, Antenora A, Pane C, Tessa A, et al. Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene. J Neurol. 2013;260(4):1116-21. doi: 10.1007/s00415-012-6770-5.
63. Werdelin L, Keiding N. Hereditary ataxias: epidemiological aspects. Neuroepidemiology. 1990;9(6):321-31.
64. Gudmundsson KR. Prevalence and occurrence of some rare neurological diseases in Iceland. Acta Neurol Scand. 1969;45(1):114-8.
65. Marino TC, Zaldivar YG, Mesa JM, Mederos LA, Rodriguez RA, Gotay DA, et al. Low predisposition to instability of the Friedreich ataxia gene in Cuban population. Clin Genet. 2010;77(6):598-600. doi: 10.1111/j.1399-0004.2009.01361.x.
66. Singh I, Faruq M, Mukherjee O, Jain S, Pal PK, Srivastav MV, et al. North and South Indian populations share a common ancestral origin of Friedreich's ataxia but vary in age of GAA repeat expansion. Ann Hum Genet. 2010;74(3):202-10. doi: 10.1111/j.1469-1809.2010.00569.x.
67. Monticelli A, Giacchetti M, De Biase I, Pianese L, Turano M, Pandolfo M, et al. New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation. Hum Genet. 2004;114(5):458-63. doi: 10.1007/s00439-004-1089-7.