Electrodiagnostic evaluation of hereditary motor and sensory neuropathies

Physical Medicine and Rehabilitation Clinics of North America

Volumn 14, Issue 2, 2003, Pages 347-363

  Carter, Gregory T ^a,c   England, John D ^b   Hecht, Thomas W ^a   Han, Jay J ^a   Weydt, Patrick ^a   Chance, Phillip F ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b Billings Clinic Red Lodge   (United States)

^c NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DEMYELINATING DISEASE; DIAGNOSTIC ERROR; DISEASE CLASSIFICATION; ELECTRODIAGNOSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NERVE CONDUCTION; PRIORITY JOURNAL; REVIEW;

EID: 0037674853     PISSN: 10479651     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1047-9651(02)00127-4     Document Type: Review

References (111)

1. Abresch RT, Jensen MP, Carter GT. Health quality of life in peripheral neuropathy. Phys Med Rehabil Clin N Am 2001;12(2):461-72.
2. Boerkoel CF, Takashima H, Garcia CA, et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 2002;51(2):190-201.
3. Carter GT, Abresch RT, Fowler WM, et al. Profiles of neuromuscular disease: hereditary motor and sensory neuropathy, types I and II. Am J Phys Med Rehabil 1995;74(5): S140-9.
4. Emery AEH. Population frequencies of inherited neuromuscular diseases - a world survey. Neuromuscul Disord 1991;1:19-29.
5. Chance PF. Survey of inherited peripheral nerve diseases. Electroencephalogr Clin Neurophysiol 1999;50:121-8.
6. Chance P. Molecular basis of hereditary neuropathies. Phys Med Rehabil Clin N Am 2001;12:277-92.
7. Chance P, Ashizawa T, Hoffman E, et al. Molecular basis of neuromuscular disease. Phys Med Rehabil Clin N Am 1998;9:49-81.
8. Durr A, Brice A, Serdaru M, et al. The phenotype of pure autosomal dominant spastic paraplegia. Neurology 1994;44:1274-7.
9. Dyck PJ, Mellinger JF, Reagan TJ, et al. Not "indifference to pain" but varieties of hereditary sensory and autonomic neuropathy. Brain 1983;106:373-8.
10. Krivickas L. Electrodiagnosis in neuromuscular diseases. Phys Med Rehabil Clin N Am 1998;9:83-114.
11. Ouvrier RA, McLeod JG, Conchin TE. Friedreich's ataxia: early detection and progression of peripheral nerve abnormalities. J Neurol Sci 1982;55:137-45.
12. Pelosi L, Lanzillo B, Perretti A, et al. Motor and somatosensory evoked potentials in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 1991;54:12:1099-102.
13. Tenembaum SN, Reisin RC, Taratuto AL, et al. Spastic paraparesis and sensory neuropathy. Muscle Nerve 1996;19(5):649-53.
14. McDonald CM. Clinical approach to the diagnostic evaluation of progressive neuromuscular diseases. Phys Med Rehab Clin N Am 1998;9:9-48.
15. Ionasescu VV. Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. Muscle Nerve 1995;18:267-75.
16. Johnson B, Fuglsang-Frederiksen A. Electrodiagnosis of polyneuropathy. Neurophysiol Clin 2000;30(6):339-51.
17. 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(9):1806-8.
18. Hoogendijik JE, de Visser M, Bolhuis PA, et al. Hereditary motor and sensory neuropathy type 1: clinical and neurographical features of the 17p duplication subtype. Muscle Nerve 1994;17(1):85-90.
19. Kaku DA, Parry GJ, Malamut R, et al. Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1. Neurology 1993;43(12):2664-7.
20. Murkami T, Garcia CA, Reiter LT, et al. Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine (Baltimore) 1996;75(5):233-50.
21. Alam TA, Chaudry V, Cornblath DR. Electrophysiological studies in Guillain-Barre syndrome: distinguishing subtypes by published criteria. Muscle Nerve 1998;21:1275-9.
22. Carter GT, Kilmer DD, Szabo RM, et al. Focal posterior interosseous neuropathy in the presence of hereditary motor and sensory neuropathy, type I. Muscle Nerve 1996;19: 644-8.
23. Carter GT, Robinson LR, Chang VH, et al. Electrodiagnostic evaluation of traumatic nerve injuries. Hand Clin 2000;16(1):1-12.
24. Hoogendijik JE, de Visser M, Bour LJ, et al. Conduction block in hereditary motor and sensory neuropathy type 1. Muscle Nerve 1992;15(4):520-3.
25. Oh SJ. Conduction block in hereditary motor and sensory neuropathy type 1: case report. Muscle Nerve 1992;15(4):521-3.
26. Chance PF, Matsunami N, Lensch W, et al. Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT locus. Neurology 1992;42:2037-41.
27. Hayasaka K, Himoro M, Sato W, et al. Charcot-Marie-Tooth neuropathy type Ib is associated with mutations of the myelin P0 gene. Nat Genet 1993;5:31-4.
28. 0 gene in Charcot-Marie-Tooth disease type 1B. Nat Genet 1993;5:35-40.
29. Lupski JR, Mentes de Oca-Luna R, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-32.
30. Lupski JR. An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant neuropathy: Charcot-Marie-Tooth disease type 1A. Clin Res 1992;40:645-52.
31. Raeymaekers P, Timmerman V, Nelis E, et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1A (CMT1A). Neuromuscul Disord 1991;1:93-7.
32. Roa BB, Garcia CA, Suter U, et al. Charcot-Marie-Tooth disease type 1A associated with de novo point mutation in the PMP22 gene. N Engl J Med 1992;329:96-101.
33. Andreadou E, Yapijakis C, Paraskevas GP, et al. Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation. J Neurol 1996;243(3):225-30.
34. Chance PF, Alderson MK, Leppig KA, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993;72:143-51.
35. Pareyson D, Taroni F. Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies. Curr Opin Neurol 1996;9(5):348-54.
36. Reisecker F, Leblhuber F, Lexner R, et al. A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings. Neurology 1994;44(4):753-5.
37. Felice KJ, Leicher CR, DiMario FJ. Hereditary neuropathy with liability to pressure palsies in children. Pediatr Neurol 1999;21(5):818-21.
38. Felice KJ, Poole RM, Blaivas M, et al. Hereditary neuropathy with liability to pressure palsies masquerading as slowly progressive polyneuropathy. Eur Neurol 1994;34(3): 173-6.
39. Lenssen PP, Gabreels-Festen AA, Valentijn LJ, et al. Hereditary neuropathy with liability to pressure palsies: phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. Brain 1998;121(8):1451-8.
40. Yoshioka R, Dyck PJ, Chance PF. Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. Neurology 1996;(2):569-71.
41. Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, Takeda S. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1BB. Cell 2001;105: 587-97.
42. Bergoffen J, Scherer SS, Wang S, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993;262:2039.
43. Lewis RA, Shy M. Electrodiagnostic findings in CMTX: a disorder of the Schwann cell and peripheral nerve myelin. Ann N Y Acad Sci 1999;883:504-7.
44. Selby G. Hereditary motor and sensory neuropathy type II followed in the next two generations by a clinically distal motor neuropathy. Clin Exp Neurol 1989;26:65-72.
45. Lewis RA, Sumner AL. Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal. Ann N Y Acad Sci 1999;883:321-35.
46. Sghirlanzoni A, Pareyson D, Scaioli V, et al, Hereditary motor and sensory neuropathy type I and type II. Ital J Neurol Sci 1990;11(5):471-9.
47. Pareyson D, Sghirlanzoni A. Conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1. Neurology 1994;44(11):2216.
48. Thomas PK. Classification and electrodiagnosis of hereditary neuropathies. In: Brown WF, Bolton CF, editors. Clinical electromyography. 2nd edition. Boston: Butterworth Heinemann; 1993. p. 391-425.
49. Vasilescu C. Hereditary motor and sensory neuropathy: clinical, genetic and electrodiagnostic studies. Rom J Neurol Psychiatry 1993;31(3-4):207-19.
50. Yim SY, Lee IY, Moon HW, et al. Hypertrophic neuropathy with complete conduction block: hereditary motor and sensory neuropathy type III. Yonsei Med J 1995;36(5):466-72.
51. Mano Y, Nakamuro T, Ikoma K, et al. A clinicophysiologic study of central and peripheral motor conduction in hereditary demyelinating motor and sensory neuropathy. Electromyogr Clin Neurophysiol 1993;33(2):101-7.
52. Nicholson GA. Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies. Neurology 1991;41(4):547-52.
53. Parman Y, Plante-Bordeneuve V, Guiochon-Mantel A, Eraksoy M, Said G. Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. Ann Neurol 1999;45(4):518-22.
54. Street VA, Goldy JD, Golden AS, et al. Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. Am J Hum Genet 2002;70:244-50.
55. McDonald CM. Peripheral neuropathies of childhood. Phys Med Rehab Clin N Am 2001; 12:473-90.
56. Phillips JP, Warner LE, Lupski JR, Gart BP. Congenital hypomyelinating neuropathy: two patients with long-term follow-up. Pediatr Neurol 1999;20(3):226-32.
57. Mohan U, Misra VP, Britto J, Muntoni F, King RH, Thomas PK. Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement. Neuromuscul Disord 2001;11(4):395-9.
58. Timmerman V, De Jonghe P, Ceuterick C, et al. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 1999;52(9):1827-32.
59. Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelopathies. Nat Genet 1998;18(4):382-4.
60. Warner LE, Svaren J, Milbrandt J, Lupski JR. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelopathies. Hum Mol Genet 1999;8(7):1245-51.
61. Nukuda H, Pollock M, Haas LF. The clinical spectrum and morphology of type II hereditary sensory neuropathy. Brain 1982;105:647-65.
62. Ohta M, Ellefson RD, Lambert EH, et al. Hereditary sensory neuropathy, type II: clinical, electrophysiologic, histologic and biochemical studies of a Quebec kinship. Arch Neurol 1973;29:23-37.
63. Poulos A, Pollard AC, Mitchell JD, et al. Patterns of Refsum's disease: phytanic oxidase deficiency. Arch Dis Child 1984;59:222-9.
64. Benstead TJ, Grant IA. Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited neuropathies. Can J Neurol Sci 2001;28(3):199-214.
65. Dyck PJ, Karnes JL, Lambert EH. Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy, type 1. Neurology 1989;39:1302-8.
66. Roy EP, Gutmann L, Riggs JE. Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1. Muscle Nerve 1989;12(1):52-5.
67. Barisic N, Mihatov I. Neurophysiology and molecular genetics of Charcot-Marie-Tooth type 1 neuropathy in Croatian children: a follow-up study. Croat Med J 2000;41(3):306-13.
68. Ben Othmane K, Hentati F, Lennon F, et al. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet 1993;2:1625.
69. Bird TD, Kraft GH, Lipe HP, et al. Clinical and pathological phenotype of the original family with Charcot Marie Tooth type 1B: a 20 year study. Ann Neurol 1997;41(4):463-9.
70. Berciano J, Combarros O, Calleja J, et al. The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I. Muscle Nerve 1989;12(4):302-6.
71. Birouk N, Maisonobe T, Le Forestier N, et al. Charcot-Marie-Tooth disease: electromyography is still useful in diagnosis and classification. Rev Neurol 1997;153(12): 727-36.
72. Emeryk-Szajewska B, Badurska B, Kostera-Pruszczyk A. Electrophysiological findings in hereditary motor and sensory neuropathy type I and II: a conduction velocity study. Electromyogr Clin Neurophysiol 1998;38(2):95-101.
73. Emeryk-Szajewska B, Badurska B, Kostera-Pruszczyk A. Hereditary sensorimotor neuropathy in electrophysiological studies. Neurol Neurochir Pol 1998;32(2):295-308.
74. 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;120:813-23.
75. Ryniewicz B, Jedrzejowska H, Kochanski A. Genotype-phenotype correlation in hereditary motor-sensory neuropathy type IA associated with duplication in chromosome 17p11.2-1. Neurol Neurochir Pol 2000;34(6):1145-53.
76. 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;124:1958-67.
77. Dubourg O, Tardieu S, Birouk N, et al. The frequency of 17p11.2 duplication and connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity. Neuromuscul Disord 2001;11(5): 458-63.
78. Rouger H, LeGuern E, Birouk N, Gouider R, Tardieu S, Plassart E, et al. Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families. Hum Mutat 1997;10(6):443-52.
79. Birouk N, LeGuern E, Maisonobe T, et al. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology 1998;50(4): 1074-82.
80. Andersson PB, Yuen E, Parko K, et al. Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. Neurology 2000;54(1):40-4.
81. Dubourg O, Mouton P, Brice A, et al. Guidelines for the diagnosis of hereditary neuropathy with liability to pressure palsies. Neuromuscul Disord 2000;10(3):206-8.
82. Verhagen WI, Gabreels-Festen AA, van Wensen PJ, et al. Hereditary neuropathy with liability to pressure palsies: a clinical, electroneurophysiological and morphological study. J Neurol Sci 1993;116(2):176-84.
83. Mouton P, Tardieu S, Gouider R, Birouk N, Maisonobe T, Dubourg O, et al. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology 1999;52(7):1440-6.
84. Gouider R, LeGuern E, Gugenheim M, et al. Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology 1995;45(11):2018-23.
85. Orstavik K, Skard Heier M, Young P, Stogbauer F. Brachial plexus involvement as the only expression of hereditary neuropathy with liability to pressure palsies. Muscle Nerve 2001;24(8):1093-6.
86. Crum BA, Sorenson EJ, Abad GA, Dyck PJ. Fulminant case of hereditary neuropathy with liability to pressure palsy. Muscle Nerve 2000;23(6):979-83.
87. Benstead TJ, Kuntz NL, Miller RG, et al. The electrophysiologic profile of Dejerine-Sottas disease (HMSN III). Muscle Nerve 1990;13(7):586-92.
88. Sabin TD. Classification of peripheral neuropathy: the long and the short of it. Muscle Nerve 1986;9(8):711-9.
89. Trojaborg W. Early electrophysiological changes in conduction block. Muscle Nerve 1978; 1:400-3.
90. Van den Bergh PY, Jacquere P, Pieret F. Electrodiagnosis of demyelinating neuropathies. Acta Neurol Belg 2000;100(3):188-95.
91. Garcia CA, Malamut RE, England JD, et al. Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication. Neurology 1995; 45(11):2090-3.
92. Gutierrez A, England JD, Sumner AJ, et al. Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle Nerve 2000;23(2):147-9.
93. Teunissen LL, Notermans NC, Franssen H, et al. Differences between hereditary motor and sensory neuropathy type 2 and chronic idiopathic axonal neuropathy: a clinical and electrophysiological study. Brain 1997;120:955-63.
94. Suarez GA, Chalk CH, Russell JW, et al. Diagnostic accuracy and certainty from sequential evaluations in peripheral neuropathy. Neurology 2001;57(6):1118-20.
95. England JD, Garcia CA. Electrophysiological studies in the different genotypes of Charcot-Marie-Tooth disease. Curr Opin Neurol 1996;9(5):338-42.
96. Ensrud ER, Krivickas LS. Acquired inflammatory demyelinating neuropathies. Phys Med Rehabil Clin N Am 2001;12:321-34.
97. Nicolas G, Maisonobe T, Le Forestier N, et al. Proposed revised electrophysiological criteria for chronic inflammatory demyelinating polyradiculoneuropathy. Muscle Nerve 2002;25(1):26-30.
98. Ericson U, Ansved T, Borg K. Charcot-Marie-Tooth disease - muscle biopsy findings in relation to neurophysiology. Neuromuscul Disord 1998;8(3-4):175-81.
99. Carter GT, Kilmer DD, Bonekat HW, et al. Evaluation of phrenic nerve and pulmonary function in hereditary motor and sensory neuropathy, type I. Muscle Nerve 1992;15: 459-62.
100. Kraft GH. Fibrillation amplitude and muscle atrophy following peripheral nerve injury. Muscle Nerve 1990;13:814-21.
101. Dorfman LJ. Quantitative clinical electrophysiology in the evaluation of nerve injury and regeneration. Muscle Nerve 1990;13:822-8.
102. Donofrio P, Albers J. Polyneuropathy: classification by nerve conduction studies and electromyography. Muscle Nerve 1990;13:889-903.
103. Elliot JL, Kwon JM, Goodfellow PJ, et al. Hereditary motor and sensory neuropathy IIB: clinical and electrodiagnostic characteristics. Neurology 1997;48(1):23-8.
104. Paraskevas GP, Panousopoulou A, Karandreas N, et al, Correlation between denervation activity and compound muscle action potential amplitude in hereditary motor and sensory neuropathy I and II. Electromyogr Clin Neurophysiol 1998;38(6):343-7.
105. Partanen JV, Danner R. Fibrillation potentials after muscle injury in humans. Muscle Nerve 1982;5(9S):S70-3.
106. Filler AG, Kliot M, Howe FA, et al. Application of magnetic resonance neurography in the evaluation of patients with peripheral nerve injury. J Neurosurg 1996;85(2):229-309.
107. Maravilla KR, Aagaard BD, Kliot M. MR neurography: MR imaging of peripheral nerve. Magn Reson Imaging Clin N Am 1998;6(1):179-94.
108. Friedman DP, Flanders AE, Tartaglino LM. Hypertrophic Charcot-Marie-Tooth disease: MR imaging findings. AJR Am J Roentgenol 1994;163(3):749-50.
109. McDonald CM, Carter GT, Fritz RC, Anderson MW, Abresch RT, Kilmer DD. Magnetic resonance imaging of denervated muscle: comparison to electromyography. Muscle Nerve 2000;23(9):1431-4.
110. West GA, Haynor DR, Goodkin R, Tsuruda JS, Bronstein AD, Kraft GH, et al. Magnetic resonance imaging signal changes in denervated muscles after peripheral nerve injury. Neurosurgery 1994;35(6):1077-86.
111. Venter JC, Adams MD, Meyers EW, et al. The sequence of the human genome. Science 2001;291:1304-51.