Novel diagnostic paradigms for Friedreich ataxia

Journal of Child Neurology

Volumn 27, Issue 9, 2012, Pages 1146-1151

  Brigatti, Karlla W ^a,b   Deutsch, Eric C ^a,b   Lynch, David R ^a,b   Farmer, Jennifer M ^a,b,c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c Friedreich Ataxia Research Alliance   (United States)

Author keywords

diagnosis; exon deletion; frataxin; Friedreich ataxia; next generation sequencing

Indexed keywords

FRATAXIN;

ALGORITHM; CONFERENCE PAPER; DISEASE SEVERITY; EXON; FAMILY HISTORY; FRIEDREICH ATAXIA; GENE DELETION; GENE DOSAGE; GENE EXPRESSION; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMAN; IMMUNOASSAY; MISSENSE MUTATION; NONSENSE MUTATION; ONSET AGE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

FRIEDREICH ATAXIA; GENETIC COUNSELING; HUMANS; IMMUNOASSAY; IRON-BINDING PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84865650781     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812448440     Document Type: Conference Paper

References (31)

1. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet. 1983 ; 1: 1151
2. Labuda M, Labuda D, Miranda C, et al. Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion. Neurology. 2000 ; 54 (12). 2322-2324 (Pubitemid 30416287)
3. Friedreich N. Uber degenerative Atrophie der pinalen Hinterstrange. Virchows Arch Pathol Anat. 1863 ; 26: 391
4. Geoffrey G, Barbeau A, Breton G, et al. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci. 1976 ; 3: 279-286 (Pubitemid 8067178)
5. 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 (Pubitemid 12202197)
6. 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 (Pubitemid 26089479)
7. Dürr 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 (Pubitemid 26339770)
8. McCabe DJ, Ryan F, Moore DP, et al. Typical Friedreich's ataxia without GAA expansions and GAA expansion without typical Friedreich's ataxia. J Neurol. 2000 ; 247 (5). 346-355 (Pubitemid 30364613)
9. Schöls L, Amoiridis G, Przuntek H, et al. Friedreich's ataxia. Revision of the phenotype according to molecular genetics. Brain. 1997 ; 120 (pt 12). 2131-2140 (Pubitemid 28014589)
10. Filla A, De Michele G, Coppola G, et al. Accuracy of clinical diagnostic criteria for Friedreich's ataxia. Mov Disord. 2000 ; 15 (6). 1255-1258
11. 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 (Pubitemid 27212663)
12. Bhidayasiri R, Perlman S, Pulst SM, Geschwind DH. Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature. Arch Neurol. 2005 ; 62: 1865-1869 (Pubitemid 41785080)
13. De Castro M, Garcia-Planells J, Monros E, et al. Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients. Hum Genet. 2000 ; 106: 86-92 (Pubitemid 30156399)
14. Cossee M, Durr A, Schmitt M, et al. Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol. 1999 ; 45: 200-206 (Pubitemid 29072366)
15. Forrest SM, Knight M, Delatycki MB, et al. The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. Neurogenetics. 1998 ; 1: 253-257 (Pubitemid 128685081)
16. Willis JH, Isaya G, Gakh O, et al. Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers. Mol Genet Metab. 2008 ; 94: 491-497
17. Deutsch EC, Santani AB, Perlman SL, et al. A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia. Mol Genet Metab. 2010 ; 101: 238-425
18. Saccà F, Puorro G, Antenora A, 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). 1-9
19. Boesch S, Sturm B, Hering S, et al. Friedreich's ataxia: clinical pilot trial with recombinant human erythropoietin. Ann Neurol. 2007 ; 62: 521-524 (Pubitemid 350308777)
20. Nachbauer W, Wanschitz J, Steinkellner H, et al. Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia. Mov Disord. 2011 ; 26 (10). 1935-1938
21. Zühlke CH, Dalski A, Habeck 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: 979-982 (Pubitemid 39462134)
22. Campuzano V, Montermini L, Lutz Y, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet. 1997 ; 6 (11). 1771-1780 (Pubitemid 27460350)
23. Steinkellner H, Scheiber-Mojdehkar Goldenberg H, Sturm B. A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels. Analytica Chimica Acta. 2010 ; 659: 129-132
24. Percy ME, Andrews DF, Thompson MW. Serum creatine kinase in the detection of Duchenne muscular dystrophy carriers: effects of season and multiple testing. Muscle Nerve. 1982 ; 5: 58-64 (Pubitemid 12164827)
25. Mayo Foundation for Medical Education and Research, Mayo Clinic Mayo Medical Laboratories. Test catalog, Test ID FFRWB: Friedreich Ataxia, Frataxin, Quantitative, Whole Blood. Available at: http://www.mayomedicallaboratories.com/ test-catalog/Clinial+and+Interpretative/60477. Accessed January 3, 2012.
26. Pandolfo M, Pastore A. The pathogenesis of Friedreich ataxia and the structure and function of frataxin. J Neurol. 2009 ; 256 (suppl 1). 9-17
27. National Center for Biological Information, GeneTests. Friedreich Ataxia Clinical Testing. Available at: http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/ clinical-disease-id/2227?db=genetests. Accessed January 3, 2012.
28. Klopstock T, Chahrokh-Zahed S, Holinski-Feder E, et al. Markedly different course of Firedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene. Acta Neropathol. 1999 ; 97: 139-142 (Pubitemid 29134542)
29. Majewski J, Schwartzentruber J, Lalonde E, et al. What can exome sequencing do for you?. J Med Genet. 2011 ; 48: 580-589
30. Bamshad MJ, Ng SB, Bigham AW, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev. 2011 ; 12: 745-755
31. Teer JK, Mullikin JC. Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet. 2010 ; 19 (R2). R145 - R151