Motor unit number index correlates with disability in Charcot-Marie-Tooth disease

Clinical Neurophysiology - Tập 129 - Trang 1390-1396 - 2018
Joachim Bas1, Emilien Delmont1,2, Farzad Fatehi1, Emmanuelle Salort-Campana1,3, Annie Verschueren1, Jean Pouget1,3, Marie-Noëlle Lefebvre4, Aude-Marie Grapperon1, Shahram Attarian1,3
1Referral Center for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, Marseille, France
2Aix-Marseille University, UMR 7286, Medicine Faculty, Marseille, France
3Aix-Marseille University, Inserm, GMGF, Marseille, France
4CIC-CPCET, La Timone University Hospital, Aix-Marseille University, Marseille, France

Tài liệu tham khảo

Ahn, 2010, Reproducibility of the motor unit number index (MUNIX) in normal controls and amyotrophic lateral sclerosis patients, Muscle Nerve, 42, 808, 10.1002/mus.21765 Armon, 1999, Motor unit number estimate-based rates of progression of ALS predict patient survival, Muscle Nerve, 22, 1571, 10.1002/(SICI)1097-4598(199911)22:11<1571::AID-MUS13>3.0.CO;2-0 Attarian, 2014, An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A, Orphanet J. Rare Dis, 9, 199, 10.1186/s13023-014-0199-0 Barreto, 2016, Epidemiologic study of charcot-marie-tooth disease: a systematic review, Neuroepidemiology, 46, 157, 10.1159/000443706 Boekestein, 2012, Motor unit number index (MUNIX) versus motor unit number estimation (MUNE): a direct comparison in a longitudinal study of ALS patients, Clin Neurophysiol Off J Int Fed, 123, 1644, 10.1016/j.clinph.2012.01.004 Burns, 2009, Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial, Lancet Neurol, 8, 537, 10.1016/S1474-4422(09)70108-5 Chumakov, 2014, Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy, Orphanet J Rare Dis, 9, 201, 10.1186/s13023-014-0201-x Colomban, 2014, Clinical spectrum and gender differences in a large cohort of Charcot-Marie-Tooth type 1A patients, J Neurol Sci, 336, 155, 10.1016/j.jns.2013.10.029 Delmont, 2016, Motor unit number index (MUNIX): Is it relevant in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)?, Clin Neurophysiol Off J Int Fed, 127, 1891, 10.1016/j.clinph.2015.12.002 Escorcio-Bezerra, 2016, MUNIX: Reproducibility and clinical correlations in Amyotrophic Lateral Sclerosis, Clin Neurophysiol Off J Int Fed, 127, 2979, 10.1016/j.clinph.2016.06.011 Fathi, 2016, Lower motor neuron involvement in ALS assessed by motor unit number index (MUNIX): Long-term changes and reproducibility, Clin Neurophysiol Off J Int Fed, 127, 1984, 10.1016/j.clinph.2015.12.023 Furtula, 2013, MUNIX and incremental stimulation MUNE in ALS patients and control subjects, Clin Neurophysiol Off J Int Fed, 124, 610, 10.1016/j.clinph.2012.08.023 Graham, 2006, A modified peripheral neuropathy scale: the Overall Neuropathy Limitations Scale, J Neurol Neurosurg Psychiatry, 77, 973, 10.1136/jnnp.2005.081547 Grimaldi, 2017, Global motor unit number index sum score for assessing the loss of lower motor neurons in amyotrophic lateral sclerosis, Muscle Nerve, 10.1002/mus.25595 Kochański, 2005, Molecular genetics studies in Polish Charcot-Marie-Tooth families, Folia Neuropathol, 43, 65 Krajewski, 2000, Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A, Brain J Neurol, 123, 1516, 10.1093/brain/123.7.1516 Lawson, 2003, Assessment of axonal loss in Charcot-Marie-Tooth neuropathies, Exp Neurol, 184, 753, 10.1016/S0014-4886(03)00293-0 Lewis, 2003, Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth disease, Muscle Nerve, 28, 161, 10.1002/mus.10419 Lewis, 2013, High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial, JAMA Neurol, 70, 981, 10.1001/jamaneurol.2013.3178 Mandel, 2015, A meta-analysis of randomized double-blind clinical trials in CMT1A to assess the change from baseline in CMTNS and ONLS scales after one year of treatment, Orphanet J Rare Dis, 10, 74, 10.1186/s13023-015-0293-y Manganelli, 2016 Micallef, 2009, Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial, Lancet Neurol, 8, 1103, 10.1016/S1474-4422(09)70260-1 Murphy, 2011, Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease, J Peripher Nerv Syst JPNS, 16, 191, 10.1111/j.1529-8027.2011.00350.x Nandedkar, 2011, Reproducibility of MUNIX in patients with amyotrophic lateral sclerosis, Muscle Nerve, 44, 919, 10.1002/mus.22204 Nandedkar, 2010, Motor unit number index (MUNIX): principle, method, and findings in healthy subjects and in patients with motor neuron disease, Muscle Nerve, 42, 798, 10.1002/mus.21824 Nandedkar, 2004, Motor unit number index (MUNIX), IEEE Trans Biomed Eng, 51, 2209, 10.1109/TBME.2004.834281 Neuwirth, 2015, Tracking motor neuron loss in a set of six muscles in amyotrophic lateral sclerosis using the Motor Unit Number Index (MUNIX): a 15-month longitudinal multicentre trial, J Neurol Neurosurg Psychiatry, 86, 1172, 10.1136/jnnp-2015-310509 Neuwirth, 2016, Quality control of motor unit number index (MUNIX) measurements in 6 muscles in a single-subject “Round-Robin” Setup, PloS One, 11, e0153948, 10.1371/journal.pone.0153948 Neuwirth, 2011, Motor Unit Number Index (MUNIX): a novel neurophysiological marker for neuromuscular disorders; test-retest reliability in healthy volunteers, Clin Neurophysiol Off J Int Fed, 122, 1867, 10.1016/j.clinph.2011.02.017 Otto M, Markvardsen L, Tankisi H, Jakobsen J, Fuglsang-Frederiksen A. The electrophysiological response to immunoglobulin therapy in chronic inflammatory demyelinating polyneuropathy. Acta Neurol. Scand. doi:10.1111/ane.12663 2016. Paramanathan, 2016, Axonal loss in patients with inflammatory demyelinating polyneuropathy as determined by motor unit number estimation and MUNIX, Clin Neurophysiol Off J Int Fed, 127, 898, 10.1016/j.clinph.2015.05.004 Pareyson, 2009, Diagnosis, natural history, and management of Charcot-Marie-Tooth disease, Lancet Neurol, 8, 654, 10.1016/S1474-4422(09)70110-3 Pareyson, 2011, Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial, Lancet Neurol, 10, 320, 10.1016/S1474-4422(11)70025-4 Pareyson, 2006, Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease, Neuromolecular Med, 8, 3, 10.1385/NMM:8:1-2:3 Patzkó, 2011, Update on Charcot-Marie-Tooth disease, Curr Neurol Neurosci Rep, 11, 78, 10.1007/s11910-010-0158-7 Philibert, 2017, Monitoring the short-term effect of intravenous immunoglobulins in multifocal motor neuropathy using motor unit number index, Clin Neurophysiol Off J Int Fed, 128, 235, 10.1016/j.clinph.2016.11.012 Shefner, 2001, Motor unit number estimation in human neurological diseases and animal models, Clin Neurophysiol Off J Int Fed, 112, 955, 10.1016/S1388-2457(01)00520-X Stein, 2016, Toward the validation of a new method (MUNIX) for motor unit number assessment, J Electromyogr Kinesiol Off J Int Soc Electrophysiol Kinesiol, 27, 73, 10.1016/j.jelekin.2016.02.001 Szigeti, 2009, Charcot-Marie-Tooth disease, Eur J Hum Genet EJHG, 17, 703, 10.1038/ejhg.2009.31 van Nes, 2011, Rasch-built Overall Disability Scale (R-ODS) for immune-mediated peripheral neuropathies, Neurology, 76, 337, 10.1212/WNL.0b013e318208824b Verhamme, 2009, Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial, BMC Med, 7, 70, 10.1186/1741-7015-7-70 Verhamme, 2004, Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia, J Neurol, 251, 1491, 10.1007/s00415-004-0578-x Videler, 2008, Motor axon loss is associated with hand dysfunction in Charcot-Marie-Tooth disease 1a, Neurology, 71, 1254, 10.1212/01.wnl.0000327643.05073.eb