Neurophysiological techniques to detect early small-fiber dysfunction in transthyretin amyloid polyneuropathy

Muscle and Nerve

Volumn 49, Issue 2, 2014, Pages 181-186

  Conceição, Isabel ^a,b   Costa, João ^b   Castro, José ^a,b   de Carvalho, Mamede ^a,b  

^a HOSPITAL DE SANTA MARIA   (Portugal)

^b INSTITUTO DE MEDICINA MOLECULAR JOÃO LOBO ANTUNES   (Portugal)

Author keywords

Familial amyloid polyneuropathy; Laser evoked potentials; Nerve conduction studies; Sensitivity; Specificity; Sympathetic skin response

Indexed keywords

ADULT; AREA UNDER THE CURVE; ARTICLE; BRAIN CORTEX; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DIAGNOSTIC TEST ACCURACY STUDY; EARLY DIAGNOSIS; FAMILIAL AMYLOIDOSIS; FEMALE; HUMAN; LASER EVOKED POTENTIAL; LEG; MAJOR CLINICAL STUDY; MALE; MUTATION; NERVE FIBER; NERVE POTENTIAL; NEUROPHYSIOLOGY; PRIORITY JOURNAL; RECEIVER OPERATING CHARACTERISTIC; SENSITIVITY AND SPECIFICITY; SENSORY NERVE; SURAL NERVE; SYMPATHETIC SKIN RESPONSE; TRANSTHYRETIN FAMILIAL AMYLOID POLYNEUROPATHY;

FAMILIAL AMYLOID POLYNEUROPATHY; LASER EVOKED POTENTIALS; NERVE CONDUCTION STUDIES; SENSITIVITY; SPECIFICITY; SYMPATHETIC SKIN RESPONSE;

ACTION POTENTIALS; ADULT; AMYLOID NEUROPATHIES; AMYLOID NEUROPATHIES, FAMILIAL; CASE-CONTROL STUDIES; EVOKED POTENTIALS; FEMALE; FOOT; HUMANS; MALE; MIDDLE AGED; NERVE FIBERS; PROSPECTIVE STUDIES; REACTION TIME; RETROSPECTIVE STUDIES; SENSITIVITY AND SPECIFICITY; SKIN; SURAL NERVE;

EID: 84892512585     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23901     Document Type: Article

References (29)

1. Said G, Ropert A, Faux N. Length-dependent degeneration of fibers in Portuguese amyloid polyneuropathy: a clinicopathologic study. Neurology 1984;34:1025-1032.
2. Coutinho P, Martins da Silva A, Lopes Lima J, Resende Barbosa A. Forty years of experience with type I amyloid neuropathy. Review of 483 cases. In: Glenner GG, Pinho e Costa P, Falcao de Freitas A, editors. Amyloid and amyloidosis. Amsterdam: Excerpta Medica; 1980. p 88-98.
3. Benson MD. The hereditary amyloidoses. Best Pract Res Clin Rheumatol 2003;17:909-927.
4. Plante-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol 2011;10:1086-1097.
5. Adams D, Lozeron P, Lacroix C. Amyloid neuropathies. Curr Opin Neurol 2012;25:564-572.
6. de Carvalho M, Conceicao I, Bentes C, Luis ML. Long-term quantitative evaluation of liver transplantation in familial amyloid polyneuropathy (Portuguese V30M). Amyloid 2002;9:126-133.
7. Okamoto S, Wixner J, Obayashi K, Ando Y, Ericzon BG, Friman S, et al. Liver transplantation for familial amyloidotic polyneuropathy: impact on Swedish patients' survival. Liver Transpl 2009;15:1229-1235.
8. Coelho T, Maia L, Martins da Silva A, Waddington Cruz M, Plante-Bordeneuve V, Lozeron P, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology 2012;79:785-792.
9. de Carvalho M. Is it better than it seems or just good enough? The tafamidis saga. Muscle Nerve 2012;46:839-840.
10. Lefaucheur JP, Ng Wing Tin S, Kesrchen P, Damy T, Plante-Bordeneuve V. Neurophysiological markers of small fibre neuropathy in TTR-FAP mutation carriers. J Neurol 2013 [Epub ahead of print].
11. Ducla-Soares J, Alves MM, Carvalho M, Povoa P, Conceicao I, Sales Luis ML. Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type. Acta Neurol Scand 1994;90: 266-269.
12. Conceicao I, Castro JF, Scotto M, de Carvalho M. Neurophysiological markers in familial amyloid polyneuropathy patients: early changes. Clin Neurophysiol 2008;119:1082-1087.
13. Conceicao I, Castro JF, Costa JP, de Carvalho M. Early-detection of small-fiber neuropathy in familial amyloid polyneuropathy patients. Clin Neurophysiol 2010;121(Suppl 1):S230-S231.
14. Cruccu G, Sommer C, Anand P, Attal N, Baron R, Garcia-Larrea L, et al. EFNS guidelines on neuropathic pain assessment: revised 2009. Eur J Neurol 2010;17:1010-1018.
15. Glas AS, Lijmer JG, Prins MH, Bonsel GJ, Bossuyt PM. The diagnostic odds ratio: a single indicator of test performance. J Clin Epidemiol 2003;56:1129-1235.
16. Esper GJ, Nardin RA, Benatar M, Sax TW, Acosta JA, Raynor EM. Sural and radial sensory responses in healthy adults: diagnostic implications for polyneuropathy. Muscle Nerve 2005;31:628-632.
17. Swets JA. Measuring the accuracy of diagnostic systems. Science 1988;240:1285-1293.
18. Montagna P, Marchello L, Plasmati R, Ferlini A, Patrosso MC, Salvi F. Electromyographic findings in transthyretin (TTR)-related familial amyloid polyneuropathy (TTR-FAP). Electroencephalogr Clin Neurophysiol 1996;101:423-430.
19. Periquet MI, Novak V, Collins MP, Nagaraja HN, Erdem S, Nash SM, et al. Painful sensory neuropathy: prospective evaluation using skin biopsy. Neurology 1999;53:1641-1647.
20. Freeman R, Chase KP, Risk MR. Quantitative sensory testing cannot differentiate simulated sensory loss from sensory neuropathy Neurology 2003;60:465-470.
21. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, et al. Practice parameter: evaluation of distal symmetric polyneuropathy: role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine and American Academy of Physical Medicine and Rehabilitation. Neurology 2009;72:177-184.
22. Conceicao I, Castro JF, Scotto M, de Carvalho M. Neurophysiological markers in familial amyloid polyneuropathy patients: early changes. Clin Neurophysiol 2008;119:1082-1087.
23. Conceicao I, Castro JF, Costa JP, de Carvalho M. Early-detection of small-fiber neuropathy in familial amyloid polyneuropathy patients. Clin Neurophysiol 2010;121(Suppl 1):S230-S231.
24. Herrmann DN, Ferguson ML, Pannoni V, Barbano RL, Stanton M, Logigian EL. Plantar nerve AP and skin biopsy in sensory neuropathies with normal routine conduction studies. Neurology 2004;63:879-885.
25. 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;255:23-26.
26. Devigili G, Tugnoli V, Penza P, Camozzi F, Lombardi R, Melli G, et al. The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology. Brain 2008;131:1912-1925.
27. Truini A, Romaniello A, Galeotti F, Iannetti GD, Cruccu G. Laser evoked potentials for assessing sensory neuropathy in human patients. Neurosci Lett 2004;361:25-28.
28. Garcia-Larrea L, Convers P, Magnin M, Andre-Obadia N, Peyron R, Laurent B, Mauguiere F. Laser-evoked potential abnormalities in central pain patients: the influence of spontaneous and provoked pain. Brain 2002;125:2766-2781.
29. Cruccu G, Sommer C, Anand P, Attal N, Baron R, Garcia-Larrea L, et al. EFNS guidelines on neuropathic pain assessment: revised 2009. Eur J Neurol 2010;17:1010-1018.