Thesis

45 questionnaires. Lancet Neurol. 2018;17(5):456-466. doi:10.1016/S1474-4422(18)30071-1 59. Bakkers M, Faber CG, Drent M, et al. Pain and autonomic dysfunction in patients with sarcoidosis and small fibre neuropathy. J Neurol. 2010;257(12):2086-2090. doi:10.1007/s00415-010-5664-7 60. Attal N, Bouhassira D, Baron R. Diagnosis and assessment of neuropathic pain through questionnaires. Lancet Neurol. 2018;17(5):456-466. doi:10.1016/S1474-4422(18)30071-1 61. Zilliox L, Peltier AC, Wren PA, et al. Assessing autonomic dysfunction in early diabetic neuropathy: the Survey of Autonomic Symptoms. Neurology. 2011;76(12):1099-1105. doi:10.1212/WNL.0b013e3182120147 62. Cornblath DRM, Chaudhry VM, Carter KM, et al. Total neuropathy score: validation and reliability study. Neurology. 1999;8(53):1660-1664. 63. Bril V, Tomioka S, Buchanan RA, Perkins BA. Reliability and validity of the modified Toronto Clinical Neuropathy Score in diabetic sensorimotor polyneuropathy. Diabet Med. 2009;26(3):240-246. doi:10.1111/j.1464-5491.2009.02667.x 64. Singleton JR, Bixby B, Russell JW, et al. The Utah Early Neuropathy Scale: A sensitive clinical scale for early sensory predominant neuropathy. J Peripher Nerv Syst. 2008;13(3):218-227. doi:10.1111/j.1529-8027.2008.00180.x 65. Faber CG, Hoeijmakers JGJ, Ahn HS, et al. Gain of function Na V1.7 mutations in idiopathic small fiber neuropathy. Ann Neurol. 2012;71(1):26-39. doi:10.1002/ana.22485 66. Brouwer BA, Bakkers M, Hoeijmakers JGJ, Faber CG, Merkies ISJ. Improving assessment in small fiber neuropathy. J Peripher Nerv Syst. 2015;20(3):333-340. doi:10.1111/jns.12128 67. Hoitsma E, De Vries J, Drent M. The small fiber neuropathy screening list: Construction and cross-validation in sarcoidosis. Respir Med. 2011;105(1):95-100. doi:10.1016/j.rmed.2010.09.014 68. Faber CG, Lauria G, Merkies ISJ, et al. Gain-of-function Nav1.8 mutations in painful neuropathy. Proc Natl Acad Sci. 2012;109(47):19444-19449. doi:10.1073/pnas.1216080109 69. Fang X, Djouhri L, Black JA, Dib-Hajj SD, Waxman SG, Lawson SN. The Presence and Role of the Tetrodotoxin-Resistant Sodium Channel Na v 1.9 (NaN) in Nociceptive Primary Afferent Neurons. J Neurosci. 2002;22(17):7425-7433. doi:10.1523/jneurosci.22-17-07425.2002 70. Hoeijmakers JG, Faber CG, Lauria G, Merkies IS, Waxman SG. Small-fibre neuropathiesadvances in diagnosis, pathophysiology and management. Nat Rev Neurol. 2012;8(7):369-379. doi:10.1038/nrneurol.2012.97 71. Castoro R, Simmons M, Ravi V, Huang D, Lee C. SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology. Neurol Genet. 2018;0:1-7. doi:10.1212/NXG.0000000000000255 72. Waxman SG. Painful Na-channelopathies: an expanding universe. Trends Mol Med. 2013;19:406-409. doi:10.1016/j.molmed.2013 73. Zhang XY, Wen J, Yang W, et al. Gain-of-Function mutations in SCN11A cause familial episodic pain. Am J Hum Genet. 2013;93(5):957-966. doi:10.1016/j.ajhg.2013.09.016 74. Walk D, Wendelschafer-Crabb G, Davey C, Kennedy WR. Concordance between epidermal nerve fiber density and sensory examination in patients with symptoms of idiopathic small fiber neuropathy. J Neurol Sci. 2007;255(1-2):23-26. doi:10.1016/j.jns.2007.01.052 75. Wendelschafer-Crabb G, Kennedy WR, Walk D. Morphological features of nerves in skin biopsies. J Neurol Sci. 2006;242(1-2 SPEC. ISS.):15-21. doi:10.1016/j.jns.2005.11.010 76. Illigens BMW, Gibbons CH. Sweat testing to evaluate autonomic function. Clin Auton Res. 2009;19(2):79-87. doi:10.1007/s10286-008-0506-8 77. Casellini CM, Parson HK, Richardson MS, Nevoret ML, Vinik AI. Sudoscan, a noninvasive tool for detecting diabetic small fiber neuropathy and autonomic dysfunction. Diabetes Technol Ther. 2013;15(11):948-953. doi:10.1089/dia.2013.0129 78. Luo KR, Chao CC, Chen YT, et al. Quantitation of sudomotor innervation in skin biopsies of patients with diabetic neuropathy. J Neuropathol Exp Neurol. 2011;70(10):930-938. 2 47 2

RkJQdWJsaXNoZXIy MjY0ODMw