Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients

Muscle and Nerve

Volumn 46, Issue 5, 2012, Pages 698-704

  Tavakoli, Mitra ^a   Marshall, Andy ^b   Banka, Siddharth ^c   Petropoulos, Ioannis N ^a   Fadavi, Hassan ^a   Kingston, Helen ^c   Malik, Rayaz A ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b Department of Neurophysiology   (United Kingdom)

^c ST MARY S HOSPITAL   (United Kingdom)

Author keywords

C fiber; CMT1A; Corneal confocal microscopy; Corneal nerves; Electrophysiology; Neuropathy

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; CORNEA SENSIBILITY; CORNEAL CONFOCAL MICROSCOPY; ELECTROPHYSIOLOGY; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MOTOR UNIT POTENTIAL; NERVE FIBER C; NON INVASIVE PROCEDURE; PRIORITY JOURNAL; SENSORY EVALUATION; SMALL FIBER NEUROPATHY;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; CORNEA; FEMALE; HUMANS; MALE; MICROSCOPY, CONFOCAL; MIDDLE AGED; NERVE FIBERS, UNMYELINATED; PAIN MEASUREMENT;

EID: 84867340991     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23377     Document Type: Article

References (44)

1. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974; 6: 98-118.
2. Lupski JR, Garcia CA. Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A. Brain Pathol 1992; 2: 337-349.
3. Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000; 123: 1516-1527.
4. Reilly MM. Sorting out the inherited neuropathies. Pract Neurol 2007; 7: 93-105.
5. Shy ME. Charcot-Marie-Tooth disease: an update. Curr Opin Neurol 2004; 17: 579-585.
6. Dyck P. Hereditary motor and sensory neuropathies. In: Dyck P, Thomas P, editors. Peripheral neuropathy. Philadelphia: W.B. Saunders; 1993. p 1094-1136.
7. Senderek J, Hermanns B, Bergmann C, Boroojerdi B, Bajbouj M, Hungs M, et al. X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1). J Neurol Sci 1999; 167: 90-101.
8. Hattori N, Yamimoto M, Yoshihara T, Koike H, Nokigawa M, Yoshikawa H, et al. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Brain 2003; 126: 134-151.
9. Ericson U, Borg K. Analysis of sensory function in Charcot-Marie-Tooth disease. Acta Neurol Scand 1999; 99: 291-296.
10. Hanson P, Deltombe T. Preliminary study of large and small peripheral nerve fibers in Charcot-Marie-Tooth disease, type I. Am J Phys Med Rehabil 1998; 77: 45-48.
11. Zambelis T. Small fiber neuropathy in Charcot-Marie-Tooth disease. Acta Neurol Belg 2009; 109: 294-297.
12. Lankers J, Frieling A, Kunze K, Bromm B. Ultralate cerebral potentials in a patient with hereditary motor and sensory neuropathy type I indicate preserved C-fiber function. J Neurol Neurosurg Psychiatry 1991; 54: 650-652.
13. Ingall TJ, McLeod JG. Autonomic function in hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Muscle Nerve 1991; 14: 1080-1083.
14. Koike H, Iijima M, Mori K, Yamamato M, Hattori N, Katsuno M, et al. Nonmyelinating Schwann cell involvement with well-preserved unmyelinated axons in Charcot-Marie-Tooth disease type 1A. J Neuropathol Exp Neurol 2007; 66: 1027-1036.
15. Benedetti S, Previtali SC, Coviello S, Scarlato M, Cerri F, De Pierri E, et al. Analyzing histopathological features of rare Charcot-Marie-Tooth neuropathies to unravel their pathogenesis. Arch Neurol 2010; 67: 1498-1505.
16. Saporta MA, Katona I, Lewis RA, Masse S, Shy ME, et al. Shortened internodal length of dermal myelinated nerve fibers in Charcot-Marie-Tooth disease type 1A. Brain 2009; 132: 3263-3273.
17. Dacci P, Dina G, Cerri F, Previtali SC, Lopez ID, Lauria G, et al. Foot pad skin biopsy in mouse models of hereditary neuropathy. Glia 2010; 58: 2005-2016.
18. Müller LJ, Marfurt CF, Kruse F, Tervo TM. Corneal nerves: structure, contents and function. Exp Eye Res 2003; 76: 521-542.
19. Müller LJ, Vrensen GF, Pels C, Cardozo BN, Willekens B. Architecture of human corneal nerves. Invest Ophthalmol Vis Sci 1997; 38: 985-994.
20. Ueda S, del Cerro M, LoCascio JA, Aquavella JV. Peptidergic and catecholaminergic fibers in the human corneal epithelium. An immunohistochemical and electron microscopic study. Acta Ophthalmol Suppl 1989; 192: 80-90.
21. Rosenberg ME, Tervo TM, Immonen IJ, Müller MJ, Grönhagen-Riska C, Vesaluoma MH, et al. Corneal structure and sensitivity in type 1 diabetes mellitus. Invest Ophthalmol Vis Sci 2000; 41: 2915-2921.
22. Tavakoli M, Kallinikos P, Iqbal A, Herbert A, Fadavi H, Ephron N, et al. Corneal confocal microscopy: a novel noninvasive test to diagnose and stratify the severity of human diabetic neuropathy. Diabetes Care 2010; 33: 1792-1797.
23. Tavakoli M, Marshall A, Pitceathly R, Fadavi H, Gow D, Roberts ME, et al. Corneal confocal microscopy: a novel means to detect nerve fiber damage in idiopathic small fiber neuropathy. Exp Neurol 2010; 223: 245-250.
24. Tavakoli M, Marshall A, Thompson L, Kenny M, Waldek S, Ephron N, et al. Corneal confocal microscopy: a novel noninvasive means to diagnose neuropathy in patients with Fabry disease. Muscle Nerve 2009; 40: 976-984.
25. Mimura T, Amano S, Fukuoka S, Honda N, Arita R, Ochiai M, et al. In vivo confocal microscopy of hereditary sensory and autonomic neuropathy. Curr Eye Res 2008; 33: 940-945.
26. Lalive PH, Truffert A, Magistris MR, Landis T, Dosso A. Peripheral autoimmune neuropathy assessed using corneal in vivo confocal microscopy. Arch Neurol 2009; 66: 403-405.
27. Gemignani F, Ferrai T, Vetetta F, Giovitelli M, Macaluso C, Marbini A. Non-length-dependent small fiber neuropathy. Confocal microscopy study of the corneal innervation. J Neurol Neurosurg Psychiatry 2010; 81: 731-733.
28. Ferrari G, Gemignanai F, Macaluso C. Chemotherapy-associated peripheral sensory neuropathy assessed using in vivo corneal confocal microscopy. Arch Neurol 2010; 67: 364-365.
29. Quattrini C, Tavakoli M, Jeziorska M, Kallinikos P, Tesfaye S, Finnigan J, et al. Surrogate markers of small fiber damage in human diabetic neuropathy. Diabetes 2007; 56: 2148-2154.
30. Tavakoli M, Kallinikos PA, Ephron N, Boulton AJ, Mallik RA. Corneal sensitivity is reduced and relates to the severity of neuropathy in patients with diabetes. Diabetes Care 2007; 30: 1895-1897.
31. Mehra S, Tavakoli M, Kallinikos PA, Ephron M, Boulton AJ, Augustine T, et al. Corneal confocal microscopy detects early nerve regeneration after pancreas transplantation in patients with type 1 diabetes. Diabetes Care 2007; 30: 2608-2612.
32. Young MJ, Boulton AJ, MacLeod AF, Williams DR, Sonsken PH. A multicentre study of the prevalence of diabetic peripheral neuropathy in the United Kingdom hospital clinic population. Diabetologia 1993; 36: 150-154.
33. Belmonte C, Acosta MC, Gallar J. Neural basis of sensation in intact and injured corneas. Exp Eye Res 2004; 78: 513-525.
34. Guthoff RF, Wienss H, Hahnel C, Wree A. Epithelial innervation of human cornea: a three-dimensional study using confocal laser scanning fluorescence microscopy. Cornea 2005; 24: 608-613.
35. Ueda S, Rao GN, LoCascio JA, del Cerro M, Aquavella JV. Corneal and conjunctival changes in congenital erythropoietic porphyria. Cornea 1989; 8: 286-294.
36. Tavakoli M, Malik RA. Corneal confocal microscopy: a novel non-invasive technique to quantify small fiber pathology in peripheral neuropathies. J Vis Exp 2011.
37. Raeymaekers P, Timmerman E, Nelis V, De Jonghe P, Hoogendijk JE, Baas F, et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). Neuromuscul Disord 1991; 1: 93-97.
38. Pazzaglia C, Vellono C, Ferraro D, Virdis D, Lupi V, Le Pera D, et al. Mechanisms of neuropathic pain in patients with Charcot-Marie-Tooth 1 A: a laser-evoked potential study. Pain 2010; 149: 379-385.
39. Patel DV, McGhee CN. In vivo confocal microscopy of corneal stromal nerves in patients with peripheral neuropathy. Arch Neurol 2009; 66: 1179-1180.
40. Mocan MC, Durukan I, Irkec M, Orhan M. Morphologic alterations of both the stromal and subbasal nerves in the corneas of patients with diabetes. Cornea 2006; 25: 769-773.
41. Visser N, McGhee CN, Patel DV. Laser-scanning in vivo confocal microscopy reveals two morphologically distinct populations of stromal nerves in normal human corneas. Br J Ophthalmol 2009; 93: 506-509.
42. Baechner D, Liehr T, Hameister H, Altenberger H, Grehl H, Suter U, et al. Widespread expression of the peripheral myelin protein-22 gene (PMP22) in neural and non-neural tissues during murine development. J Neurosci Res 1995; 42: 733-741.
43. Hanemann CO, Muller HW. Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy. Trends Neurosci 1998; 21: 282-286.
44. Hossain P, Sachdev A, Malik RA. Early detection of diabetic peripheral neuropathy with corneal confocal microscopy. Lancet 2005; 366: 1340-1343.