Electromyographic findings in cransthyretin (TTR)-related familial amyloid polyneuropathy (FAP)

Electroencephalography and Clinical Neurophysiology - Electromyography and Motor Control

Volumn 101, Issue 5, 1996, Pages 423-430

  Montagna, P ^a,d   Marchello, L ^a   Plasmati, R ^b   Ferlini, A ^c   Patrosso, M C ^c   Salvi, F ^b  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b BELLARIA HOSPITAL   (Italy)

^c INSTITUTE OF BIOMEDICAL TECHNOLOGIES   (Italy)

^d Clinica Neurologica   (Italy)

Author keywords

Conduction velocity; Electromyography; Familial amyloid polyneuropathy; Liver transplantation; Sympathetic skin response; Transthyretin related hereditary amyloidosis

Indexed keywords

PREALBUMIN;

AMYLOID NEUROPATHY; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTROMYOGRAM; FAMILIAL DISEASE; HUMAN; MUTATION; PRIORITY JOURNAL; SYMPATHETIC TONE; ADULT; ELECTROMYOGRAPHY; FEMALE; LIVER TRANSPLANTATION; MALE; METABOLISM; PATHOPHYSIOLOGY; SKIN; SURAL NERVE;

ADULT; AMYLOID NEUROPATHIES; ELECTROMYOGRAPHY; FEMALE; HUMANS; LIVER TRANSPLANTATION; MALE; PREALBUMIN; SKIN; SURAL NERVE;

EID: 85047679783     PISSN: 0924980X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0924-980X(96)95662-3     Document Type: Article

References (48)

1. Abarbanel, J.M., Frisher, S. and Osimani, A. Primary amyloidosis with peripheral neuropathy and signs of motor neuron disease. Neurology, 1986, 36: 1125-1127.
2. Albers, J.W. and Kelly, J.J. Acquired inflammatory demyelinating polyneuropathies: clinical and electrodiagnostic features. Muscle Nerve, 1989, 12: 435-455.
3. Almeida, M.R., Ferlini, A., Forabosco, A., Gawinowicz, M.A., Costa, P.P., Salvi, F., Plasmati, R., Tassinari, C.A., Altland, K. and Saraiva, M.J. Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. Hum. Mutat., 1992, 1: 211-215.
4. Andersen, O. and Wallin, G. Stationary course during sixteen months after liver transplantation in familial amyloidotic polyneuropathy. II International Symposium on Familial Amyloidotic Polyneuropathy and other Transthyretin Related Disorders, Skelleftea, Sweden, 1992, p. 37.
5. Andersson, R. and Blom, S. Neurophysiological studies in hereditary amyloidosis with polyneuropathy. Acta Med. Scand., 1972, 191: 233-239.
6. Auger, R.G., Piepgras, D.G., Laws, E.R. and Miller, R.H. Microvascular decompression of the facial nerve for hemifacial spasm: clinical and electrophysiologic observations. Neurology, 1981, 31: 346-350.
7. Benson, M.D. Amyloidosis. In: C.R. Scriver, A.L. Biandet, W.S. Sly and D. Valle (Eds.), The Metabolic and Molecular Basis of Inherited Disease, 7th e-dn., Vol. III. McGraw-Hill, New York, 1995, pp. 4159-4191.
8. Blom, S., Steen, L. and Zetterlund, B. Familial amyloidosis with polyneuropathy Type 1: a neurophysiological study of peripheral nerve function. Acta Neurol. Scand., 1981, 63: 99-110.
9. Buchthal, F. and Behse, F. Peroneal muscular atrophy and related disorders, I: clinical manifestations as related to biopsy findings, nerve conduction and electromyography. Brain, 1977, 100: 41-66.
10. Buchthal, F. and Rosenfalck, A. Evoked action potentials and conduction velocity in human sensory nerves. Brain Res., 1966, 3: 1-122.
11. Buchthal, F., Pinelli, P. and Rosenfalck, P. Action potential parameters in normal human muscle and their physiological determinants. Acta. Physiol. Scand., 1954, 32: 219-229.
12. Carvalho, J., Coimbra, A. and Andrade, C. Peripheral nerve fibre changes in asymptomatic children of patients with familial amyloid polyneuropathy. Brain, 1976, 99: 1-10.
13. Cohen, A.S. and Rubinow, A. Amyloid neuropathy. In: P.J. Dyck, P.K. Thomas, E.H. Lambert and R. Bunge (Eds.), Peripheral Neuropathy. Saunders, Philadelphia, 1984, pp. 1865-1866.
14. Coimbra, A. and Andrade, C. Familial amyloid polyneuropathy: an electron microscope study of the peripheral nerve in five cases. I: Interstitial changes. Brain, 1971a, 94: 199-206.
15. Coimbra, A. and Andrade, C. Familial amyloid polyneuropathy: an electron microscope study of the peripheral nerve in five cases. II: Nerve fibre changes. Brain, 1971b, 94: 207-212.
16. Coutinho, P., Martins da Silva, A., Lopes Lima, J. and Resende Barbosa, A. Forty years of experience with Type I amyloid neuropathy: review of 483 cases. Excerpta Med. Int. Congr. Ser., 1980, 497: 88-98.
17. Dwulet, F.E. and Benson, M.D. Characterisation of a transthyretin (pre-albumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss). J. Clin. Invest., 1986, 78: 880-886.
18. Dyck, P.J. and Lambert, E.H. Dissociated sensation in amyloidosis: compound action potential, quantitative histological and teased-fiber, and electron microscopic studies of sural nerve biopsy. Arch. Neurol., 1969, 20: 490-507.
19. Erminio, F., Buchthal, F. and Rosenfalck, P. Motor unit territory and muscle fibre concentration in paresis due to peripheral nerve injury and anterior horn cell involvement. Neurology, 1959, 9: 657-671.
20. Ferlini, A., Fini, S., Salvi, F., Patrosso, M.C., Vezzoni, P. and Forabosco, A. Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. FASEB J., 1992, 6: 2864-2866.
21. Hanyu, N., Ikeda, S., Nakadai, A., Yanagisawa, N. and Powell, H.C. Peripheral nerve pathological findings in familial amyloid polyneuropathy: a correlative study of proximal sciatic nerve and sural nerve lesions. Ann. Neurol., 1989, 25: 340-350.
22. Holmgren, G., Ericzon, B.G., Groth, C.G., Steen, L., Suhr, O., Andersen, O., Wallin, B.G., Seymour, A., Richardson, S., Hawkins, P.N. and Pepys, M.B. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet, 1993, 341: 1113-1116.
23. Ikeda, S., Oguchi, K., Kobayashi, S., Tsukahara, S. and Yanagisawa, N. Histochemical study of rectal aminergic nerves in type I familial amyloid polyneuropathy. Neurology, 1983; 33: 1055-1058.
24. Ikeda, S., Hanyu, N., Hongo, M., Yoshioka, J., Oguchi, H., Yanagisawa, N., Kobayashi, T., Tsukagoshi, H., Ito, N. and Yokota, T. Hereditary generalized amyloidosis with polyneuropathy: clinicopathological study of 65 Japanese patients. Brain, 1987a, 110: 315-337.
25. Ikeda, S., Yanagisawa, N., Hongo, M. and Ito, N. Vagus nerve and celiac ganglion lesions in generalized amyloidosis: a correlative study of familial amyloid polyneuropathy and AL-amyloidosis. J. Neurol. Sci., 1987b, 79: 129-139.
26. Kametani, F., Ikeda, S., Yanagisawa, N., Ishi, T. and Hanyu, N. Characterization of a transthyretin-related amyloid fibril protein from cerebral amyloid angiopathy in type I familial amyloid polyneuropathy. J. Neurol. Sci., 1992, 108: 178-183.
27. Kincaid, J.C., Wallace, M.K. and Benson, M.D. Late-onset familial amyloid polyneuropathy in an American family of English origin. Neurology, 1989, 39: 861-863.
28. Kiuru, S. and Seppäläinen, A.M. Neuropathy in familial amyloidosis, Finnish type (FAF): electrophysiological study. Muscle Nerve, 1994, 17: 299-304.
29. Kyle, R.A., Linke, R.P. and Gertz, M.A. Amyloid localized to the tenosynovium at carpal tunnel release: immunohistochemical identification of amyloid type. In: J.B. Natvig et al. (Eds.), Amyloid and Amyloidosis 1990. Kluwer Academic, Dordrecht, 1991, pp. 671-674.
30. Lambert, E.H. Diagnostic value of electrical stimulation of motor nerves. Electroenceph. clin. Neurophysiol., 1962, 22: 9-16.
31. Lambird, P.A. and Hartmann, W.H. Hereditary amyloidosis, the flexor retinaculum and the carpal tunnel syndrome. Am. J. Clin. Pathol., 1969, 52: 714-719.
32. Montagna, P., Salvi, F. and Liguori, R. Sympathetic skin response in familial amyloid polyneuropathy. Muscle Nerve, 1988, 11: 183-184.
33. Nichols, W.C., Liepnieks, J.J., McKusick, V.A. and Benson, M.D. Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. Genomics, 1989, 5: 535-540.
34. Pinelli, P. and Buchthal, F. Duration, amplitude and shape of muscle action potentials in poliomyelitis. Electroenceph. clin. Neurophysiol., 1951, 3: 497-504.
35. Reilly, M.M. and King, R.H.M. Familial amyloid polyneuropathy. Brain Pathol., 1993. 3: 165-176.
36. Reilly, M.M., Adams, D., Booth, D.R., Davis, M.B., Said, G., Laubriat-Bianchin, M., Pepys, M.B., Thomas, P.K. and Harding, A.E. Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain, 1995, 118: 849-856.
37. Rosenfalck, P. and Rosenfalck, A. Electromyography: Motor and Sensory CV in Normal Subjects. Rigshospitalet, Copenhagen, 1975, pp. 1-49.
38. Said, G., Ropert, A. and Faux, N. Length-dependent degeneration of fibers in Portuguese amyloid polyneuropathy: a clinicopathological study. Neurology, 1984, 34: 1025-1032.
39. Sales Luis, M.L. Electroneurophysiological studies in familial amyloid polyneuropathy Portuguese type. J. Neurol. Neurosurg. Psychiatry, 1978, 41: 847-850.
40. Shahani, B.T., Halperin, J.J., Boulou, P. and Cohen, J. Sympathetic skin response: a method of assessing unmyelinated axon dysfunction in peripheral neuropathies. J. Neurol. Neurosurg. Psychiatry, 1984, 47: 536-542.
41. Simmons, Z., Blaivas, M., Aguilera, A.J., Feldman, E.L., Bromberg, M.B. and Towfighi, J. Low diagnostic yield of sural nerve biopsy in patients with peripheral neuropathy and primary amyloidosis. J. Neurol. Sci., 1993, 120: 60-63.
42. Sobue, G., Nakao, N., Murakami, K., Yasuda, T., Sahashi, K., Mitsuma, T., Sasaki, H., Sakaki, Y. and Takahashi, A. Type I familial amyloid polyneuropathy: a pathological study of the peripheral nervous system. Brain, 1990, 113: 903-919.
43. Thomas, P.K. and King, R.H.M. Peripheral nerve changes in amyloid neuropathy. Brain, 1974, 97: 395-406.
44. Traynor, A.E., Gertz, M.A. and Kyle, R.A. Cranial neuropathy associated with primary amyloidosis. Ann. Neurol., 1991, 29: 451-454.
45. Ushiyama, M., Ikeda, S. and Yanagisawa, N. Transthyretin-type cerebral amyloid angiopathy in type I familial amyloid polyneuropathy. Acta Neuropathol., 1991, 81: 524-528.
46. Yazawa, M., Ikeda, S., Ushiyama, M. and Yanagisawa, N. Noradrenergic nerve fibers of the rectal mucosa in autonomic disorder: comparison of histochemical study with clinical severity and changes in plasma nor-adrenaline induced by standing. J. Neurol. Sci., 1991a, 104: 222-229.
47. Yazawa, M., Ikeda, S. and Yanagisawa, N. Extrinsic and intrinsic nerve lesions of the intestine in type I familial amyloid polyneuropathy. In: J.B. Natvig et al. (Eds.), Amyloid and Amyloidosis 1990. Kluwer Academic, Dordrecht, 1991b, pp. 683-686.
48. Yi, S., Takahashi, K., Tashiro, F., Wakasugi, S., Yamamura, K. and Araki, S. Pathological similarity of transgenic mice carrying the human mutant transthyretin gene to human familial amyloidotic polyneuropathy (FAP) type I. In: J.B. Natvig et al. (Eds.), Amyloid and Amyloidosis 1990. Kluwer Academic, Dordrecht, 1991, pp. 663-666.