Impaired small fiber conduction in patients with Fabry disease: A neurophysiological case-control study

BMC Neurology

Volumn 13, Issue , 2013, Pages

  Üçeyler, Nurcan ^a   Kahn, Ann Kathrin ^a   Kramer, Daniela ^a   Zeller, Daniel ^a   Casanova Molla, Jordi ^a   Wanner, Christoph ^a   Weidemann, Frank ^a   Katsarava, Zaza ^b,c   Sommer, Claudia ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY OF DUISBURG ESSEN   (Germany)

^c Department of Neurology   (Germany)

Author keywords

A delta fibers; Fabry disease; Pain related evoked potentials; Small fiber neuropathy

Indexed keywords

ADULT; AGED; ARTICLE; COLD; CONTROLLED STUDY; DEPRESSION; DISEASE SEVERITY; ELECTRIC CONDUCTIVITY; EVOKED RESPONSE; FABRY DISEASE; FEMALE; HUMAN; KIDNEY DYSFUNCTION; KIDNEY FUNCTION; MAJOR CLINICAL STUDY; MALE; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; NEUROPHYSIOLOGY; PAIN; PAIN RELATED EVOKED POTENTIAL; PROSPECTIVE STUDY; PUNCH BIOPSY; SKIN BIOPSY; SMALL FIBER NEUROPATHY; TEMPERATURE SENSE; WARMING;

ADOLESCENT; ADULT; AGED; CASE-CONTROL STUDIES; DEPRESSION; EVOKED POTENTIALS; FABRY DISEASE; FEMALE; HUMANS; MALE; MIDDLE AGED; NERVE FIBERS; NEURAL CONDUCTION; PAIN; PERCEPTUAL DISORDERS; QUESTIONNAIRES; SEX FACTORS; SKIN; STATISTICS AS TOPIC; YOUNG ADULT;

EID: 84878007663     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/1471-2377-13-47     Document Type: Article

References (36)

1. Schiffmann R. Fabry disease. Pharmacol Ther 2009, 122:65-77. 10.1016/j.pharmthera.2009.01.003, 19318041.
2. Laaksonen SM, Roytta M, Jaaskelainen SK, Kantola I, Penttinen M, Falck B. Neuropathic symptoms and findings in women with Fabry disease. Clin Neurophysiol 2008, 119:1365-1372. 10.1016/j.clinph.2008.02.004, 18387337.
3. Liguori R, Di Stasi V, Bugiardini E, Mignani R, Burlina A, Borsini W, Baruzzi A, Montagna P, Donadio V. Small fiber neuropathy in female patients with fabry disease. Muscle Nerve 2010, 41:409-412. 10.1002/mus.21606, 20120004.
4. Torvin Moller A, Winther Bach F, Feldt-Rasmussen U, Rasmussen A, Hasholt L, Lan H, Sommer C, Kolvraa S, Ballegaard M, Staehelin Jensen T. Functional and structural nerve fiber findings in heterozygote patients with Fabry disease. Pain 2009, 145:237-245. 10.1016/j.pain.2009.06.032, 19665302.
5. Üçeyler N, He L, Schönfeld D, Kahn AK, Reiners K, Hilz MJ, Breunig F, Sommer C. Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy. J Peripher Nerv Syst 2011, 16:304-314. 10.1111/j.1529-8027.2011.00365.x, 22176145.
6. Burlina AP, Sims KB, Politei JM, Bennett GJ, Baron R, Sommer C, Torvin Moller A, Hilz MJ. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurol 2011, 11:61. 10.1186/1471-2377-11-61, 3126707, 21619592.
7. Kaube H, Katsarava Z, Kaufer T, Diener H, Ellrich J. A new method to increase nociception specificity of the human blink reflex. Clin Neurophysiol 2000, 111:413-416. 10.1016/S1388-2457(99)00295-3, 10699400.
8. Katsarava Z, Ayzenberg I, Sack F, Limmroth V, Diener HC, Kaube H. A novel method of eliciting pain-related potentials by transcutaneous electrical stimulation. Headache 2006, 46:1511-1517. 10.1111/j.1526-4610.2006.00446.x, 17115984.
9. Sommer C, Richter H, Rogausch JP, Frettloh J, Lungenhausen M, Maier C. A modified score to identify and discriminate neuropathic pain: a study on the German version of the neuropathic pain symptom inventory (NPSI). BMC Neurol 2011, 11:104. 10.1186/1471-2377-11-104, 3180265, 21861889.
10. Bouhassira D, Attal N, Fermanian J, Alchaar H, Gautron M, Masquelier E, Rostaing S, Lanteri-Minet M, Collin E, Grisart J, Boureau F. Development and validation of the Neuropathic Pain Symptom Inventory. Pain 2004, 108:248-257. 10.1016/j.pain.2003.12.024, 15030944.
11. Von Korff M, Ormel J, Keefe FJ, Dworkin SF. Grading the severity of chronic pain. Pain 1992, 50:133-149. 10.1016/0304-3959(92)90154-4, 1408309.
12. Radloff LS. The CES-D: a self-report symptom scale to detect depression in the general population. Appl Psychol Meas 1977, 3:385-401.
13. Lacomis D. Small-fiber neuropathy. Muscle Nerve 2002, 26:173-188. 10.1002/mus.10181, 12210380.
14. Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009, 24:2102-2111. 10.1093/ndt/gfp031, 2698092, 19218538.
15. Tahir H, Jackson LL, Warnock DG. Antiproteinuric Therapy and Fabry Nephropathy: Sustained Reduction of Proteinuria in Patients Receiving Enzyme Replacement Therapy with Agalsidase-beta. J Am Soc Nephrol 2007, 18:2609-2617. 10.1681/ASN.2006121400, 17656478.
16. Vedder AC, Linthorst GE, Houge G, Groener JE, Ormel EE, Bouma BJ, Aerts JM, Hirth A, Hollak CE. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS ONE 2007, 2:e598. 10.1371/journal.pone.0000598, 1913555, 17622343.
17. Kimura J. Electrodiagnosis in diseases of nerve and muscle: Principles and practice. Third edition edn 2001, New York: Oxford University Press.
18. Rolke R, Baron R, Maier C, Tölle TR, Treede RD, Beyer A, Binder A, Birbaumer N, Birklein F, Botefur IC. Quantitative sensory testing in the German Research Network on Neuropathic Pain (DFNS): standardized protocol and reference values. Pain 2006, 123:231-243. 10.1016/j.pain.2006.01.041, 16697110.
19. Magerl W, Krumova EK, Baron R, Tolle T, Treede RD, Maier C. Reference data for quantitative sensory testing (QST): refined stratification for age and a novel method for statistical comparison of group data. Pain 2010, 151:598-605. 10.1016/j.pain.2010.07.026, 20965658.
20. Üçeyler N, Zeller D, Kahn AK, Kewenig S, Kittel-Schneider S, Schmid A, Casanova-Molla J, Reiners K, Sommer C. Small fibre pathology in patients with fibromyalgia syndrome. Brain 2013,
21. Üçeyler N, Kafke W, Riediger N, He L, Necula G, Toyka KV, Sommer C. Elevated proinflammatory cytokine expression in affected skin in small fiber neuropathy. Neurology 2010, 74:1806-1813. 10.1212/WNL.0b013e3181e0f7b3, 20513817.
22. Lauria G, Cornblath DR, Johansson O, McArthur JC, Mellgren SI, Nolano M, Rosenberg N, Sommer C. European Federation of Neurological S: EFNS guidelines on the use of skin biopsy in the diagnosis of peripheral neuropathy. Eur J Neurol 2005, 12:747-758. 10.1111/j.1468-1331.2005.01260.x, 16190912.
23. Biegstraaten M, Binder A, Maag R, Hollak CE, Baron R, van Schaik IN. The relation between small nerve fibre function, age, disease severity and pain in Fabry disease. Eur J Pain 2011, 15:822-829. 10.1016/j.ejpain.2011.01.014, 21334933.
24. Dutsch M, Marthol H, Stemper B, Brys M, Haendl T, Hilz MJ. Small fiber dysfunction predominates in Fabry neuropathy. J Clin Neurophysiol 2002, 19:575-586. 10.1097/00004691-200212000-00011, 12488789.
25. Low M, Nicholls K, Tubridy N, Hand P, Velakoulis D, Kiers L, Mitchell P, Becker G. Neurology of Fabry disease. Intern Med J 2007, 37:436-447. 10.1111/j.1445-5994.2007.01366.x, 17547722.
26. Luciano CA, Russell JW, Banerjee TK, Quirk JM, Scott LJ, Dambrosia JM, Barton NW, Schiffmann R. Physiological characterization of neuropathy in Fabry's disease. Muscle Nerve 2002, 26:622-629. 10.1002/mus.10236, 12402283.
27. Scott LJ, Griffin JW, Luciano C, Barton NW, Banerjee T, Crawford T, McArthur JC, Tournay A, Schiffmann R. Quantitative analysis of epidermal innervation in Fabry disease. Neurology 1999, 52:1249-1254. 10.1212/WNL.52.6.1249, 10214752.
28. Maag R, Binder A, Maier C, Scherens A, Toelle T, Treede RD, Baron R. Detection of a characteristic painful neuropathy in Fabry disease: a pilot study. Pain Med 2008, 9:1217-1223. 10.1111/j.1526-4637.2008.00470.x, 18565003.
29. Schepers RJ, Ringkamp M. Thermo receptors and thermo sensitive afferents. Neurosci Biobehav Rev 2010, 34:177-184. 10.1016/j.neubiorev.2009.10.003, 19822171.
30. Kakigi R, Endo C, Neshige R, Kuroda Y, Shibasaki H. Estimation of conduction velocity of A delta fibers in humans. Muscle Nerve 1991, 14:1193-1196. 10.1002/mus.880141209, 1766450.
31. Lefaucheur JP, Ahdab R, Ayache SS, Lefaucheur-Menard I, Rouie D, Tebbal D, Neves DO, Ciampi de Andrade D. Pain-related evoked potentials: a comparative study between electrical stimulation using a concentric planar electrode and laser stimulation using a CO2 laser. Neurophysiol Clin 2012, 42:199-206. 10.1016/j.neucli.2011.12.003, 22632868.
32. Müller D, Obermann M, Koeppen S, Kavuk I, Yoon MS, Sack F, Diener HC, Kaube H, Katsarava Z. Electrically evoked nociceptive potentials for early detection of diabetic small-fiber neuropathy. Eur J Neurol 2010, 17:834-841. 10.1111/j.1468-1331.2009.02938.x, 20192984.
33. Obermann M, Katsarava Z, Esser S, Sommer C, He L, Selter L, Yoon MS, Kaube H, Diener HC, Maschke M. Correlation of epidermal nerve fiber density with pain-related evoked potentials in HIV neuropathy. Pain 2008, 138:79-86. 10.1016/j.pain.2007.11.009, 18096318.
34. Valeriani M, Mariotti P, Le Pera D, Restuccia D, De Armas L, Maiese T, Vigevano F, Antuzzi D, Zampino G, Ricci R, Tonali P. Functional assessment of A delta and C fibers in patients with Fabry's disease. Muscle Nerve 2004, 30:708-713. 10.1002/mus.20174, 15468314.
35. Kaye EM, Kolodny EH, Logigian EL, Ullman MD. Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation. Ann Neurol 1988, 23:505-509. 10.1002/ana.410230513, 3133979.
36. Park S, Kim JA, Joo KY, Choi S, Choi EN, Shin JA, Han KH, Jung SC, Suh SH. Globotriaosylceramide leads to K(Ca)3.1 channel dysfunction: a new insight into endothelial dysfunction in Fabry disease. Cardiovasc Res 2011, 89:290-299. 10.1093/cvr/cvq333, 20971723.