FabryScan: A screening tool for early detection of Fabry disease

Journal of Neurology

Volumn 259, Issue 11, 2012, Pages 2393-2400

  Arning, Kathrin ^a   Naleschinski, Dennis ^a   Maag, Rainer ^a   Biegstraaten, Marieke ^b   Kropp, Peter ^c   Lorenzen, Jürgen ^c   Hollak, Carla E M ^b   Van Schaik, Ivo N ^b   Harten, Pontus ^d   Zeuner, Rainald A ^a   Binder, Andreas ^a   Baron, Ralf ^a  

^a UNIVERSITY OF KIEL   (Germany)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF ROSTOCK   (Germany)

^d Center of Internal Rheumatology   (Germany)

Author keywords

Metabolic disease (inherited); Morbus Fabry; Neuropathic pain; Peripheral neuropathy; Screening tool

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CONTROLLED STUDY; EARLY DIAGNOSIS; FABRY DISEASE; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; PAIN; POINT OF CARE TESTING; POLYNEUROPATHY; PRIORITY JOURNAL; SCREENING TEST; SENSITIVITY AND SPECIFICITY;

ADOLESCENT; ADULT; AGED; CHILD; COHORT STUDIES; EARLY DIAGNOSIS; FABRY DISEASE; FEMALE; HUMANS; MALE; MASS SCREENING; MIDDLE AGED; POINT-OF-CARE SYSTEMS; PROSPECTIVE STUDIES; QUESTIONNAIRES; YOUNG ADULT;

EID: 84868213904     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6619-y     Document Type: Article

References (39)

1. Zarate YA, Hopkin RJ (2008) Fabry's disease. Lancet 372(9647): 1427-1435
2. Rolfs A et al (2005) Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 366(9499): 1794-1796 (Pubitemid 41642643)
3. Schiffmann R (2009) Fabry disease. Pharmacol Ther 122(1): 65-77
4. Scriver CR, Beaudet AL, Sly WS et al (eds) (2001) The metabolic and molecular bases of inherited disease, 8th edn. McGraw, New York
5. Spada M et al (2006) High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 79(1):31-40 (Pubitemid 43927374)
6. Aerts JMGJ et al (2008) Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci USA 105: 2812-2817
7. Lee BHHS et al (2010) Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. J Hum Genet 55:512-517
8. Marchesoni CL et al (2010) Misdiagnosis in Fabry disease. J Pediatr 156(5):828-831
9. Mehta A et al (2004) Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34(3):236-242 (Pubitemid 38406640)
10. Lacomis D, Roeske-Anderson L, Mathie L (2005) Neuropathy and Fabry's disease. Muscle Nerve 31(1):102-107 (Pubitemid 40053934)
11. Mehta A et al (2010) Fabry disease: a review of current management strategies. QJM 103(9):641-659
12. Eng CM et al (2001) Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 345(1):9-16 (Pubitemid 32634266)
13. Schiffmann R et al (2001) Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285(21):2743-2749 (Pubitemid 32525371)
14. Waldek S et al (2009) Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry registry. Genet Med 11(11):790-796
15. Mehta A et al (2009) Enzyme replacement therapy with agalsi-dase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 374(9706):1986-1996
16. Moller AT, Jensen TS (2007) Neurological manifestations in Fabry's disease. Nat Clin Pract Neurol 3(2):95-106 (Pubitemid 46237916)
17. Ginsberg L (2006) Nervous system manifestations of Fabry disease: data from FOS-the Fabry outcome survey
18. Hilz MJ (2002) Evaluation of peripheral and autonomic nerve function in Fabry disease. Acta Paediatr Suppl 91(439):38-42 (Pubitemid 36174148)
19. Rolke R et al (2006) Quantitative sensory testing in the German research network on neuropathic pain (DFNS): standardized protocol and reference values. Pain 123(3):231-243
20. Maier C et al (2010) Quantitative sensory testing in the German research network on neuropathic pain (DFNS): somatosensory abnormalities in 1,236 patients with different neuropathic pain syndromes. Pain 150(3):439-450
21. Maag R et al (2008) Detection of a characteristic painful neuropathy in Fabry disease: a pilot study. Pain Med 9(8):1217-1223
22. Dutsch M et al (2002) Small fiber dysfunction predominates in Fabry neuropathy. J Clin Neurophysiol 19(6):575-586 (Pubitemid 36008382)
23. Biegstraaten M et al (2011) The relation between small nerve fibre function, age, disease severity and pain in Fabry disease. Eur J Pain 15(8):822-829
24. Aletaha D et al (2010) Rheumatoid arthritis classification criteria: an American college of rheumatology/European league against rheumatism collaborative initiative. Ann Rheum Dis 69(9): 1580-1588
25. England JD et al (2005) Distal symmetric polyneuropathy: a definition for clinical research: report of the American academy of neurology, the American association of electrodiagnostic medicine, and the American academy of physical medicine and rehabilitation. Neurology 64(2):199-207
26. Whybra C et al (2004) The mainz severity score index: a new instrument for quantifying the Anderson-Fabry disease pheno-type, and the response of patients to enzyme replacement therapy. Clin Genet 65(4):299-307 (Pubitemid 38443553)
27. Schwarzer G, Türp JC, Antes G (2002) EbM-Splitter: nutzen diagnostischer tests in der praxis: prädiktive Werte. Dtsch Zah-närztl Z 57:573-575
28. Schwarzer G, Türp JC, Antes G (2002) EbM-Splitter: die vier-feldertafel (in diagnosestudien): sensitivität und Spezifität. Dtsch Zahnärztl Z 57:333
29. Schwarzer G, Türp JC, Antes G (2002) EbM-spliter: sensitivität und spezifität: die auswirkung der wahl des trennpunktes. Dtsch Zahnärztl Z 57:446-447
30. Florkowski CM (2008) Sensitivity, specificity, receiver-operating characteristic (ROC) curves and likelihood ratios: communicating the performance of diagnostic tests. Clin Biochem Rev 29(1):83-87
31. Cortina JM (1993) What is coefficient alpha? An examination of theory and applications. J Appl Psychol 78:98-104
32. Lance CE, Butts MM, Michels LC (2006) The sources of four commonly reported cut off criteria: what did they really say? Organ Res Methods 9(2):202-220 (Pubitemid 43907720)
33. Meikle PJ et al (1999) Prevalence of lysosomal storage disorders. JAMA 281(3):249-254 (Pubitemid 29058114)
34. Hwu WL et al (2009) Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c. 936+919G>A(IVS4+919G>A). Hum Mutat 30(10):1397-1405
35. Watt T et al (2004) Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry registry. Genet Med 12(11):703-712
36. Bennett MI et al (2007) Using screening tools to identify neuropathic pain. Pain 127(3):199-203 (Pubitemid 46084881)
37. Deegan PB et al (2006) Natural history of Fabry disease in females in the Fabry outcome survey. J Med Genet 43(4): 347-352
38. Laaksonen SM et al (2008) Neuropathic symptoms and findings in women with Fabry disease. Clin Neurophysiol 119(6): 1365-1372
39. Torvin Moller A et al (2009) Functional and structural nerve fiber findings in heterozygote patients with Fabry disease. Pain 145(1-2):237-245