An update on electrophysiological studies in neuropathy

Current Opinion in Neurology

Volumn 16, Issue 5, 2003, Pages 603-612

  Krarup, Christian ^a  

^a Rigshospitalet   (Denmark)

Author keywords

Axonal degeneration; Conduction velocity; Demyelination; Electrophysiology; Excitability; Nerve conduction studies

Indexed keywords

IMMUNOGLOBULIN; IMMUNOSUPPRESSIVE AGENT;

CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY; CLINICAL FEATURE; CLINICAL TRIAL; DIABETES MELLITUS; DIABETIC NEUROPATHY; ELECTRODIAGNOSIS; ELECTROPHYSIOLOGY; GAMMOPATHY; GUILLAIN BARRE SYNDROME; HUMAN; MOTOR NERVE; MULTIFOCAL MOTOR NEUROPATHY; NERVE CONDUCTION; NEUROPATHY; NEUROPHYSIOLOGY; NONHUMAN; PARANEOPLASTIC NEUROPATHY; PATHOGENESIS; RABBIT; REVIEW; SENSORY NERVE; VASCULITIS;

DIABETIC NEUROPATHIES; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; HUMANS; INFLAMMATION; NERVE FIBERS, MYELINATED; NERVE FIBERS, UNMYELINATED; PAIN; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 0142105846     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-200310000-00007     Document Type: Review

References (161)

1. Pourmand R. Evaluating patients with suspected peripheral neuropathy: do the right thing, not everything. Muscle Nerve 2002; 26:288-290. This article contains recommendations and opinions regarding electrodiagnostic testing for different types of neuropathy.
2. Swash M. What does the neurologist expect from clinical neurophysiology? Muscle Nerve 2002; 11 (Suppl):S134-S138.
3. Dyck PJ, Litchy WJ, Daube JR, et al. Individual attributes versus composite scores of nerve conduction abnormality: sensitivity, reproducibility, and concordance with impairment. Muscle Nerve 2003; 27:202-210. In groups of patients with different types of neuropathy, different measures of nerve conduction parameters were evaluated to ascertain the features that were most relevant clinically.
4. Stewart JD, McKelvey R, Durcan L, et al. Chronic inflammatory demyelinating polyneuropathy (CIDP) in diabetics. J Neurol Sci 1996; 142:59-64.
5. Thomas PK. Clinical features and investigation of diabetic somatic peripheral neuropathy. Clin Neurosci 1997; 4:341-345.
6. Thomas PK. Classification, differential diagnosis, and staging of diabetic peripheral neuropathy. Diabetes 1997; 46 (Suppl 2):S54-S57.
7. Lozeron P, Nahum L, Lacroix C, et al. Symptomatic diabetic and non-diabetic neuropathies in a series of 100 diabetic patients. J Neurol 2002; 249:569-575. Neuropathies in diabetic patients with severe symptoms were evaluated regarding clinical, electrophysiological and pathogenic mechanisms.
8. Meijer JW, Bosma E, Lefrandt JD, et al. Clinical diagnosis of diabetic polyneuropathy with the diabetic neuropathy symptom and diabetic neuropathy examination scores. Diabetes Care 2003; 26:697-701.
9. Sumner CJ, Sheth S, Griffin JW, et al. The spectrum of neuropathy in diabetes and impaired glucose tolerance. Neurology 2003; 60:108-111. This is a helpful study of the different clinical and pathological manifestations in patients with overt diabetes mellitus or an impaired glucose-tolerance test.
10. Dyck PJ, Karnes JL, O'Brien P, et al. The spatial distribution of fiber loss in diabetic polyneuropathy suggests ischemia. Ann Neurol 1986; 19:440-449.
11. Eaton JW, Qian M. Interactions of copper with glycated proteins: possible involvement in the etiology of diabetic neuropathy. Mol Cell Biochem 2002; 234-235:135-142.
12. Pop-Busui R, Marinescu V, Van Huysen C, et al. Dissection of metabolic, vascular, and nerve conduction interrelationships in experimental diabetic neuropathy by cyclooxygenase inhibition and acetyl-L-carnitine administration. Diabetes 2002; 51:2619-2628.
13. Thomsen K, Rubin I, Lauritzen M. NO- and non-NO-, non-prostanoid- dependent vasodilatation in rat sciatic nerve during maturation and developing experimental diabetic neuropathy. J Physiol 2002; 543:977-993. This is an experimental study of arterial relaxation and perfusion in an animal model.
14. Koike H, Morishita R, Iguchi S, et al. Enhanced angiogenesis and improvement of neuropathy by cotransfection of human hepatocyte growth factor and prostacyclin synthase gene. FASEB J 2003; 17:779-781. This paper describes experimental studies, conducted using several animal models, on the influence of vector-transferred endothelial growth factors on ischemia and diabetic neuropathy.
15. Ekberg K, Brismar T, Johansson BL, et al. Amelioration of sensory nerve dysfunction by C-Peptide in patients with type 1 diabetes. Diabetes 2003; 52:536-541. This paper describes improved conduction velocity and vibratory perception threshold in patients with diabetes treated with C-protein.
16. Behse F, Buchthal F, Carlsen F. Nerve biopsy and conduction studies in diabetic neuropathy. J Neurol Neurosurg Psychiatry 1977; 40:1072-1082.
17. Carrington AL, Shaw JE, Van Schie CH, et al. Can motor nerve conduction velocity predict foot problems in diabetic subjects over a 6-year outcome period? Diabetes Care 2002; 25:2010-2015.
18. Perkins BA, Ngo M, Bril V. Symmetry of nerve conduction studies in different stages of diabetic polyneuropathy. Muscle Nerve 2002; 25:212-217.
19. Dyck PJB, Norell JE, Dyck PJ. Non-diabetic lumbosacral radiculoplexus neuropathy: natural history, outcome and comparison with the diabetic variety. Brain 2001; 124:1197-1207.
20. Dyck PJB, Windebank AJ. Diabetic and nondiabetic lumbosacral radiculoplexus neuropathies: new insights into pathophysiology and treatment. Muscle Nerve 2002; 25:477-491. This is a review of the symptoms, pathology and treatment of proximal neuropathy in diabetic and non-diabetic patients.
21. Said G, Goulon-Goeau C, Lacroix C, et al. Nerve biopsy findings in different patterns of proximal diabetic neuropathy. Ann Neurol 1994; 35:559-569.
22. Said G, Elgrably F, Lacroix C, et al. Painful proximal diabetic neuropathy: inflammatory nerve lesions and spontaneous favorable outcome. Ann Neurol 1997; 41:762-770.
23. Llewelyn JG, Thomas PK, King RH. Epineurial microvasculitis in proximal diabetic neuropathy. J Neurol 1998; 245:159-165.
24. Trojaborg W, Smith T, Jakobsen J, et al. Cardiorespiratory reflexes, vibratory and thermal thresholds, sensory and motor conduction in diabetic patients with end-stage nephropathy. Acta Neurol Scand 1994; 90:1-4.
25. Simmons Z, Feldman EL. Update on diabetic neuropathy. Curr Opin Neurol 2002; 15:595-603.
26. Llewelyn JG, Gilbey SG, Thomas PK, et al. Sural nerve morphometry in diabetic autonomic and painful sensory neuropathy. A clinicopathological study. Brain 1991; 114:867-892.
27. Aminoff M, Chelimsky T, Fealey R, et al. Assessment: clinical autonomic testing report of the therapeutics and technology assessment subcommittee of the American Academy of Neurology. Neurology 1996; 46:873-880.
28. Sharma KR, Cross J, Ayyar DR, et al. Diabetic demyelinating polyneuropathy responsive to intravenous immunoglobulin therapy. Arch Neurol 2002; 59:751-757. In this series of 26 patients, IVIg improved the CIDP in about 80% of cases.
29. Sharma KR, Cross J, Farronay O, et al. Demyelinating neuropathy in diabetes mellitus. Arch Neurol 2002; 59:758-765. This paper demonstrates that there is a greater incidence of CIDP in subjects with diabetes than in the normal population.
30. Cocito D, Ciaramitaro P, Isoardo G, et al. Intravenous immunoglobulin as first treatment in diabetics with concomitant distal symmetric axonal polyneuropathy and CIDP. J Neurol 2002; 249:719-722. This paper indicates the limited effect of IVIg in CIDP in diabetes.
31. Chia L, Fernandez A, Lacroix C, et al. Contribution of nerve biopsy findings to the diagnosis of disabling neuropathy in the elderly. A retrospective review of 100 consecutive patients. Brain 1996; 119:1091-1098.
32. Latov N. Diagnosis of CIDP. Neurology 2002; 59 (Suppl 6):S2-S6.
33. Sander HW, Latov N. Research criteria for defining patients with CIDP. Neurology 2003; 60 (Suppl 3):S8-S15. It is suggested that the criteria for CIDP in the American Academy of Neurology guidelines are too strict, and this paper presents an argument for the inclusion of patients with variant symptoms.
34. Chaudhry V, Escolar DM, Cornblath DR. Worsening of multifocal motor neuropathy during pregnancy. Neurology 2002; 59:139-141.
35. Chio A, Cocito D, Leone M, et al. Guillain-Barré syndrome: a prospective, population-based incidence and outcome survey. Neurology 2003; 60:1146-1150. This is an epidemiological study of GBS in Italy; the incidence is calculated, and the prognosis was found to be worse in patients with axonal loss in electromyographic and nerve conduction studies.
36. Pytel P, Rezania K, Soliven B, et al. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with hypertrophic spinal radiculopathy mimicking neurofibromatosis. Acta Neuropathol (Berl) 2003; 105:185-188. This is a case-report of CIDP with hypertrophic spinal roots.
37. Takada H, Ravnborg M. Magnetically evoked motor potentials in demyelinating and axonal polyneuropathy: a comparative study. Eur J Neurol 2000; 7:63-69.
38. Alfonsi E, Merlo IM, Clerici AM, et al. Proximal nerve conduction by high-voltage electrical stimulation in S(1) radiculopathies and acquired demyelinating neuropathies. Clin Neurophysiol 2003; 114:239-247. This presents a comparison of spinal ventral root excitability in radiculopathy and CIDP: the former showed loss of motor response amplitude, whereas the latter showed slowed proximal conduction.
39. Inaba A, Yokota T, Otagiri A, et al. Electrophysiological evaluation of conduction in the most proximal motor root segment. Muscle Nerve 2002; 25:608-611. Slow root conduction in inflammatory demyelinating neuropathy compared with amyotrophic lateral sclerosis.
40. Asbury AK, Cornblath DR. Assessment of current diagnostic criteria for Guillain-Barré syndrome. Ann Neurol 1990; 27 (Suppl):S21-S24.
41. Cornblath DR, Asbury AK, Albers JW, et al. Research criteria for diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP). Neurology 1991; 41:617-618.
42. Cornblath DR, Sumner AJ, Daube J, et al. Conduction block in clinical practice. Muscle Nerve 1991; 14:869-871.
43. Olney RK. Consensus criteria for the diagnosis of partial conduction block. Muscle Nerve 1999; 22:S225-S229.
44. Dalakas MC. Mechanisms of action of IVIg and therapeutic considerations in the treatment of acute and chronic demyelinating neuropathies. Neurology 2002; 59 (Suppl 6):S13-S21. This provides a review of IVIg treatment.
45. Donaghy M, Mills KR, Boniface SJ, et al. Pure motor demyelinating neuropathy: deterioration after steroid treatment and improvement with intravenous immunoglobulin. J Neurol Neurosurg Psychiatry 1994; 57:778-783.
46. Nobile-Orazio E, Cappellari A, Meucci N, et al. Multifocal motor neuropathy: clinical and immunological features and response to IVIg in relation to the presence and degree of motor conduction block. J Neurol Neurosurg Psychiatry 2002; 72:761-766.
47. Van den Berg-Vos RM, Franssen H, Visser J, et al. Disease severity in multifocal motor neuropathy and its association with the response to immunoglobulin treatment. J Neurol 2002; 249:330-336. This paper describes the effect of IVIg treatment on 38 patients with MMN.
48. Van Asseldonk JT, Van den Berg LH, Van den Berg-Vos RM, et al. Demyelination and axonal loss in multifocal motor neuropathy: distribution and relation to weakness. Brain 2003; 126:186-198. This article describes clinical and electrophysiological correlates in 39 patients with MMN.
49. Gold RG, Dalakas MC, Toyka KV. Immunotherapy in autoimmune neuromuscular disorders. Lancet Neurology 2003; 2:22-32. This is a review of immune treatment.
50. van Schaik IN, Winer JB, De Haan R, et al. Intravenous immunoglobulin for chronic inflammatory demyelinating polyradiculoneuropathy. Lancet Neurology 2002; 1:491-498. This is a review of the treatment of CIDP with IVIg.
51. Pandian JD, Khosla P. A misdiagnosis of multifocal motor neuropathy. Lancet Neurology 2003; 2:317-318. This is a typical case-report demonstration of wrong clinical diagnosis in a patient with MMN.
52. Visser J, Van den Berg-Vos RM, Franssen H, et al. Mimic syndromes in sporadic cases of progressive spinal muscular atrophy. Neurology 2002; 58:1593-1596. This paper describes the misdiagnosis of spinal muscular atrophy in subjects with various treatable disorders.
53. Gorson KC, Ropper AH, Weinberg DH, et al. Efficacy of intravenous immunoglobulin in patients with IgG monoclonal gammopathy and polyneuropathy. Arch Neurol 2002; 59:766-772.
54. Nobile-Orazio E, Meucci N, Baldini L, et al. Long-term prognosis of neuropathy associated with anti-MAG IgM M-proteins and its relationship to immune therapies. Brain 2000; 123:710-717.
55. Wilson HC, Lunn MPT, Schey S, et al. Successful treatment of IgM paraproteinaemic neuropathy with fludarabine. J Neurol Neurosurg Psychiatry 1999; 66:575-580.
56. Sung J-Y, Kuwabara S, Ogawara K, et al. Patterns of nerve conduction abnormalities in POEMS syndrome. Muscle Nerve 2002; 26:189-193. This provides an interesting demonstration of the patterns of nerve conduction slowing in this syndrome compared with anti-myelin-associated-glycoprotein neuropathy.
57. Stubbs Jr EB, Lawlor MW, Richards MP, et al. Anti-neurofilament antibodies in neuropathy with monoclonal gammopathy of undetermined significance produce experimental motor nerve conduction block. Acta Neuropathol (Berl) 2003; 105:109-116. This paper describes experimental conduction block after intraneural injection of antibody.
58. Katz JS, Barohn RJ, Kojan S, et al. Axonal multifocal motor neuropathy without conduction block or other features of demyelination. Neurology 2002; 58:615-620.
59. Van den Berg-Vos RM, Visser J, Franssen H, et al. Sporadic lower motor neuron disease with adult onset: classification of subtypes. Brain 2003; 126:1036-1047. This provides classification of lower motor neuron disorders in cases that may resemble MMN.
60. Olney RK, Lewis RA, Putnam TD, et al. Consensus criteria for the diagnosis of multifocal motor neuropathy. Muscle Nerve 2003; 27:117-121. This is an American Association of Electrodiagnostic Medicine consensus report for the diagnosis of MMN, based on published papers and expert experience.
61. Chaudhry V, Corse AM, Cornblath DR, et al. Multifocal motor neuropathy: electrodiagnostic features. Muscle Nerve 1994; 17:198-205.
62. Kaji R, Oka N, Tsuji T, et al. Pathological findings at the site of conduction block in multifocal motor neuropathy. Ann Neurol 1993; 33:152-158.
63. Krarup C, Stewart JD, Sumner AJ, et al. A syndrome of asymmetric limb weakness with motor conduction block. Neurology 1990; 40:118-127.
64. Plante-Bordeneuve V, Said G. Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy. Muscle Nerve 2002; 26:608-621. This paper reviews hypertrophic neuropathy in childhood, with emphasis on differential diagnosis; inflammatory mediated neuropathies are included.
65. Gong Y, Tagawa Y, Lunn MP, et al. Localization of major gangliosides in the PNS: implications for immune neuropathies. Brain 2002; 125:2491-2506. This paper gives a classification and distribution of clinical syndromes associated with specific anti-glycolipid antibodies.
66. Willison HJ, Yuki N. Peripheral neuropathies and anti-glycolipid antibodies. Brain 2002; 125:2591-2625. This is an authoritative, helpful and exhaustive review of anti-glycolipid antibodies in neuropathy.
67. Hafer-Macko CE, Hsieh ST, Li CY, et al. Acute motor axonal neuropathy: an antibody-mediated attack on axolemma. Ann Neurol 1996; 40:635-644.
68. Yuki N, Kuwabara S, Koga M, et al. Acute motor axonal neuropathy and acute motor-sensory axonal neuropathy share a common immunological profile. J Neurol Sci 1999; 168:121-126.
69. Yuki N, Yamada M, Koga M, et al. Animal model of axonal Guillain-Barré syndrome induced by sensitization with GM1 ganglioside. Ann Neurol 2001; 49:712-720.
70. Arasaki K, Kusunoki S, Kudo N, et al. Acute conduction block in vitro following exposure to antiganglioside sera. Muscle Nerve 1993; 16:587-593.
71. Wirguin I, Rosoklija G, Trojaborg W, et al. Axonal degeneration accompanied by conduction block induced by toxin mediated immune reactivity to GM1 ganglioside in rat nerves. J Neurol Sci 1995; 130:17-21.
72. Harvey GK, Toyka KV, Zielasek J, et al. Failure of anti-GM(1) IgG or IgM to induce conduction block following intraneural transfer. Muscle Nerve 1995; 18:388-394.
73. Hirota N, Kaji R, Bostock H, et al. The physiological effect of anti-GM1 antibodies on saltatory conduction and transmembrane currents in single motor axons. Brain 1997; 120:2159-2169.
74. Krarup C. The compound sensory action potential in normal and pathological human nerves, Muscle Nerve (in press).
75. Kusunoki S, Shimizu J, Chiba A, et al. Experimental sensory neuropathy induced by sensitization with ganglioside GD1b. Ann Neurol 1996; 39:424-431.
76. Ang CW, Laman JD, Willison HJ, et al. Structure of Campylobacter jejuni lipopolysaccharides determines antiganglioside specificity and clinical features of Guillain-Barré and Miller Fisher patients. Infect Immun 2002; 70:1202-1208.
77. Willison HJ. Fine specificity of anti-GQ1b antibodies and clinical features. J Neurol Sci 2001; 185:1-2.
78. Uncini A, Lugaresi A. Fisher syndrome with tetraparesis and antibody to GQ1b: evidence for motor nerve terminal block. Muscle Nerve 1999; 22:640-644.
79. Wirguin I, Ifergane G, Almog Y, et al. Presynaptic neuromuscular transmission block in Guillain-Barré syndrome associated with anti-GQ1(b) antibodies. Neuromuscular Disord 2002; 12:292-293. This paper describes electrophysiological signs suggesting presynaptic involvement in Miller Fisher syndrome.
80. Buchwald B, Bufler J, Carpo M, et al. Combined pre- and postsynaptic action of IgG antibodies in Miller Fisher syndrome. Neurology 2001; 56:67-74.
81. O'Hanlon GM, Bullens RW, Plomp JJ, et al. Complex gangliosides as autoantibody targets at the neuromuscular junction in Miller Fisher syndrome: a current perspective. Neurochem Res 2002; 27:697-709. This is a review of antibody involvement and structural lesions in Miller Fisher syndrome.
82. Shimamura H, Miura H, Iwaki Y, et al. Clinical, electrophysiological, and serological overlap between Miller Fisher syndrome and acute sensory ataxic neuropathy. Acta Neurol Scand 2002; 105:411-413. This is a case-report of this rare overlap, with detailed evaluation of the immunological profile.
83. Ogawara K, Kuwabara S, Yuki N. Fisher syndrome or Bickerstaff brainstem encephalitis? Anti-GQ1b IgG antibody syndrome involving both the peripheral and central nervous systems. Muscle Nerve 2002; 26:845-849. This is a case-report on overlap peripheral and central nervous system electrophysiological abnormalities.
84. Yuki N, Wakabayashi K, Yamada M, et al. Overlap of Guillain-Barré syndrome and Bickerstaff's brainstem encephalitis. J Neurol Sci 1997; 145:119-121.
85. Lopate G, Choksi R, Pestronk A. Severe sensory ataxia and demyelinating polyneuropathy with IgM anti-GM2 and GaINAc-GD1A antibodies. Muscle Nerve 2002; 25:828-836. This paper describes two patients with ataxia and concomitant slowing of motor conduction velocities indicating demyelinating neuropathy.
86. Willison HJ, O'Leary CP, Veitch J, et al. The clinical and laboratory features of chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies. Brain 2001; 124:1968-1977.
87. Zochodne DW, Auer R, Fritzler MJ. Longstanding ataxic demyelinating polyneuronopathy with a novel autoantibody. Neurology 2003; 60:127-129. This paper describes chronic progressive CIDP with sensory ataxia due to sensory neuronopathy and antibodies against anti-M-phase phosphoprotein-1.
88. Bostock H, Cikurel K, Burke D. Threshold tracking techniques in the study of human peripheral nerve. Muscle Nerve 1998; 21:137-158.
89. Burke D, Kiernan MC, Bostock H. Excitability of human axons. Clin Neurophysiol 2001; 112:1575-1585.
90. Cappelen-Smith C, Kuwabara S, Lin CS, et al. Membrane properties in chronic inflammatory demyelinating polyneuropathy. Brain 2001; 124:2439-2447.
91. Kuwabara S, Ogawara K, Sung JY, et al. Differences in membrane properties of axonal and demyelinating Guillain-Barré syndromes. Ann Neurol 2002; 52:180-187. Refractory-period measurements were different in patients with acute motor axonal neuropathy and AIDP, suggesting that the membrane properties differed in these two conditions.
92. Kuwabara S, Cappelen-Smith C, Lin CS, et al. Effects of voluntary activity on the excitability of motor axons in the peroneal nerve. Muscle Nerve 2002; 25:176-184.
93. Cappelen-Smith C, Kuwabara S, Lin CS, et al. Activity-dependent hyperpolarization and conduction block in chronic inflammatory demyelinating polyneuropathy. Ann Neurol 2000; 48:826-832.
94. Kaji R, Bostock H, Kohara N, et al. Activity-dependent conduction block in multifocal motor neuropathy. Brain 2000; 123:1602-1611.
95. Kaji R. Physiology of conduction block in multifocal motor neuropathy and other demyelinating neuropathies. Muscle Nerve 2003; 27:285-296. This is an informative review on the physiological background to motor conduction block.
96. Cappelen-Smith C, Lin CS, Kuwabara S, et al. Conduction block during and after ischaemia in chronic inflammatory demyelinating polyneuropathy. Brain 2002; 125:1850-1858. This paper describes conduction studies on CIDP performed to ascertain the effect of hyperpolarization on conduction failure in condition with reduced safety of conduction.
97. Kiernan MC, Guglielmi JM, Kaji R, et al. Evidence for axonal membrane hyperpolarization in multifocal motor neuropathy with conduction block. Brain 2002; 125:664-675.
98. Cappelen-Smith C, Kuwabara S, Lin CS, et al. Abnormalities of axonal excitability are not generalized in early multifocal motor neuropathy. Muscle Nerve 2002; 26:769-776. Indices of excitability were normal outside sites with conduction block, indicating that the membrane was normal outside these nerve segments.
99. Priori A, Cinnante C, Pesenti A, et al. Distinctive abnormalities of motor axonal strength-duration properties in multifocal motor neuropathy and in motor neurone disease. Brain 2002; 125:2481-2490. This paper provides a comparison of membrane properties in demyelinating neuropathy and neuronopathy.
100. Hanemann CO, Gabreels-Festen AAWM. Secondary axon atrophy and neurological dysfunction in demyelinating neuropathies. Curr Opin Neurol 2002; 15:611-615.
101. Gijtenbeek JMM, Gabreëls-Festen AAWM, Lammens M, et al. Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2. Neurology 2001; 56:1766-1768.
102. Sperfeld AD, Hein C, Schröder, JM et al. Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2. Brain 2002; 125:996-1004. This paper describes peripheral nerve abnormalities in a mononeuropathy multiplex pattern in neurofibromatosis.
103. Andersson PB, Yuen E, Parko K, et al. Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. Neurology 2000; 54:40-44.
104. Koehler PJ. Hereditary neuropathy with liability to pressure palsies: the first publication (1947). Neurology 2003; 60:1211-1213.
105. Li J, Krajewski K, Shy ME, et al. Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology 2002; 58:1769-1773. Even though there are electrophysiological signs of generalized neuropathy in hereditary liability to pressure palsy, the abnormalities are most pronounced at sites of nerve entrapment.
106. Kessali M, Zemmouri R, Guilbot A, et al. A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease. Neurology 1997; 48:867-873.
107. Klein CJ, Cunningham JM, Atkinson EJ, et al. The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology 2003; 60:1151-1156. Axonal type of CMT2C was identified with gene abnormality at an area of chromosome 12 associated several neuromuscular diseases.
108. •].
109. •].
110. •].
111. •].
112. •].
113. •].
114. Bennett CL, Chance PF. Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies. Curr Opin Neurol 2001; 14:621-627.
115. Jordanova A, De Jonghe P, Boerkoel CF, et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 2003; 126:590-597. In a cohort of 323 patients with CMT, mutations in the neurofilament light chain gene (NEFL) were found in nine patients with mixed axonal-demyelinating neuropathy.
116. Hattori N, Yamamoto M, Yoshihara T, 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. In 205 Japanese patients with CMT type 1, there were mutations in myelin proteins related to clinical and electrophysiological features.
117. Gabreëls-Festen A. Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients. J Anat 2002; 200:341-356. This provides an overview of clinical, electrophysiological and genetic abnormalities in 25 patients with Dejerine-Sottas syndrome.
118. Dubourg O, Tardieu S, Birouk N, et al. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain 2001; 124:1958-1967.
119. Kleopa KA, Yum SW, Scherer SS. Cellular mechanisms of connexin32 mutations associated with CNS manifestations. J Neurosci Res 2002; 68:522-534.
120. Lee MJ, Nelson I, Houlden H, et al. Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry 2002; 73:304-306.
121. Kuntzer T, Dunand M, Schorderet DF, et al. Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy. J Neurol Sci 2003; 207:77-86.
122. Nicholson G, Nash J. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 1993; 43:2558-2564.
123. Garcia A, Combarros O, Calleja J, et al. Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study. Neurology 1998; 50:1061-1067.
124. Thomas PK, Marques W, Davis MB, et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 1997; 120:465-478.
125. Atanasoski S, Scherer SS, Nave KA, et al. Proliferation of Schwann cells and regulation of cyclin D1 expression in an animal model of Charcot-Marie-Tooth disease type 1A. J Neurosci Res 2002; 67:443-449. This paper describes CMT-like disease, in a rat model, with features consistent with findings in patients.
126. Robaglia-Schlupp A, Pizant J, Norreel JC, et al. PMP22 overexpression causes dysmyelination in mice. Brain 2002; 125:2213-2221. Overexpression of PMP22 in mice is associated with dysmyelination but not with demyelination and axonal loss.
127. Robertson AM, Perea J, McGuigan A, et al. Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A. J Anat 2002; 200:377-390.
128. Birouk N, Gouider R, Le Guern E, et al. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 1997; 120:813-823.
129. Kaku DA, Parry GJ, Malamut R, et al. Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology 1993; 43:1806-1808.
130. Gabriel CM, Gregson NA, Wood NW, et al. Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a). J Neurol Neurosurg Psychiatry 2002; 72:230-235. Immunological abnormalities were found in a subgroup of patients with stepwise progression symptoms but were not widespread in patients with CMT.
131. Carenini S, Mäurer M, Werner A, et al. The role of macrophages in demyelinating peripheral nervous system of mice heterozygously deficient in p0. J Cell Biol 2001; 152:301-308.
132. •].
133. •].
134. Mäurer M, Schmid CD, Bootz F, et al. Bone marrow transfer from wild-type mice reverts the beneficial effect of genetically mediated immune deficiency in myelin mutants. Mol Cell Neurosci 2001; 17:1094-1101.
135. •].
136. Malik RA, Veves A, Walker D, et al. Sural nerve fibre pathology in diabetic patients with mild neuropathy: relationship to pain, quantitative sensory testing and peripheral nerve electrophysiology. Acta Neuropathol (Berl) 2001; 101:367-374.
137. Vrethem M, Boivie J, Arnqvist H, et al. Painful polyneuropathy in patients with and without diabetes: clinical, neurophysiologic, and quantitative sensory characteristics. Clin J Pain 2002; 18:122-127. Comparison of characteristics of patients with painful and non-painful neuropathy showed involvement in the large and small nerve fibers in both groups.
138. Martin C, Solders G, Sonnerborg A, et al. Painful and non-painful neuropathy in HIV-infected patients: an analysis of somatosensory nerve function. Eur J Pain 2003; 7:23-31. Non-myelinated fibers were more affected in patients with painful neuropathy than in patients without pain.
139. Pardo CA, Mcarthur JC, Griffin JW. HIV neuropathy: insights in the pathology of HIV peripheral nerve disease. J Peripher Nerv Syst 2001; 6:21-27.
140. Schifitto G, McDermott MP, Mcarthur JC, et al. Incidence of and risk factors for HIV-associated distal sensory polyneuropathy. Neurology 2002; 58:1764-1768. Immunosuppression in acquired immune deficiency syndrome was associated with a higher incidence of distal sensory neuropathy.
141. Cacoub P, Maisonobe T, Thibault V, et al. Systemic vasculitis in patients with hepatitis C. J Rheumatol 2001; 28:109-118.
142. Hoitsma E, Marziniak M, Faber CG, et al. Small fibre neuropathy in sarcoidosis. Lancet 2002; 359:2085-2086.
143. Dutsch M, Marthol H, Stemper B, et al. Small fiber dysfunction predominates in Fabry neuropathy. J Clin Neurophysiol 2002; 19:575-586.
144. Luciano CA, Russell JW, Banerjee TK, et al. Physiological characterization of neuropathy in Fabry's disease. Muscle Nerve 2002; 26:622-629.
145. Empl M, Renaud S, Erne B, et al. TNF-alpha expression in painful and nonpainful neuropathies. Neurology 2001; 56:1371-1377.
146. Koltzenburg M, Scadding J. Neuropathic pain. Curr Opin Neurol 2001; 14:641-647.
147. Wu G, Ringkamp M, Hartke TV, et al. Early onset of spontaneous activity in uninjured C-fiber nociceptors after injury to neighboring nerve fibers. J Neurosci 2001; 21:RC140.
148. Lacomis D. Small-fiber neuropathy. Muscle Nerve 2002; 26:173-188.
149. Seneviratne U, Gunasekera S. Acute small fibre sensory neuropathy: another variant of Guillain-Barré syndrome? J Neurol Neurosurg Psychiatry 2002; 72:540-542. It is suggested that this group of patients with acute burning paresthesia had sensory GBS.
150. Magda P, Latov N, Renard MV, et al. Quantitative sensory testing: high sensitivity in small fiber neuropathy with normal NCS/EMG. J Peripher Nerv Syst 2002; 7:225-228.
151. Freeman R, Chase KP, Risk MR. Quantitative sensory testing cannot differentiate simulated sensory loss from sensory neuropathy. Neurology 2003; 60:465-470. This is an important study on the use of quantitative sensory testing, which could not distinguish subjects who tried to mislead the examiner from genuine subjects.
152. Shy ME, Frohman EM, So YT, et al. Quantitative sensory testing: report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology. Neurology 2003; 60:898-904. This is a consensus report on quantitative sensory testing.
153. Griffin JW, Mcarthur JC, Polydefkis M. Assessment of cutaneous innervation by skin biopsies. Curr Opin Neurol 2001; 14:655-659.
154. Polydefkis M, Hauer P, Griffin JW, et al. Skin biopsy as a tool to assess distal small fiber innervation in diabetic neuropathy. Diabetes Technol Ther 2001; 3:23-28.
155. Polydefkis M, Yiannoutsos CT, Cohen BA, et al. Reduced intraepidermal nerve fiber density in HIV-associated sensory neuropathy. Neurology 2002; 58:115-119.
156. Novak V, Freimer ML, Kissel JT, et al. Autonomic impairment in painful neuropathy. Neurology 2001; 56:861-868.
157. Lyu RK, Tang LM, Wu YR, et al. Cardiovascular autonomic function and sympathetic skin response in chronic inflammatory demyelinating polyradiculoneuropathy. Muscle Nerve 2002; 26:669-672. Mild autonomic disturbances were found in a subset of patients with CIDP.
158. De Jager AE, Sluiter HJ. Clinical signs in severe Guillain-Barré syndrome: analysis of 63 patients. J Neurol Sci 1991; 104:143-150.
159. McLeod JG. Invited review: autonomic dysfunction in peripheral nerve disease. Muscle Nerve 1992; 15:3-13.
160. Lyu RK, Tang LM, Hsu WC, et al. A longitudinal cardiovascular autonomic function study in mild Guillain-Barré syndrome. Eur Neurol 2002; 47:79-84.
161. Pan CL, Tseng TJ, Lin YH, et al. Cutaneous innervation in Guillain-Barré syndrome: pathology and clinical correlations. Brain 2003; 126:386-397. This paper presents important findings involving epidermal innervation abnormalities in patients with GBS.