Nerve conduction velocity in CMT1A: what else can we tell?
Background and purpose: Charcot-Marie-Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant since the first years of life, remains fairly stable through the life and does not correlate with disability whereas compound muscular actio...
Published in: | European Journal of Neurology |
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Blackwell Publishing Ltd
2016
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Online Access: | http://hdl.handle.net/11567/851189 https://doi.org/10.1111/ene.13079 |
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ftunivgenova:oai:iris.unige.it:11567/851189 2024-02-04T10:00:02+01:00 Nerve conduction velocity in CMT1A: what else can we tell? Manganelli F Pisciotta C Reilly MM Tozza S Schenone A Fabrizi GM Cavallaro T Vita G Padua L Gemignani F Laurà M Hughes RAC Solari A Pareyson D Santoro L Nolano M Iodice R Grandis M Cabrini I Bertolasi L Mazzeo A Majorana G Vitetta F Scaioli V Ciano C Calabrese D Quattrone A Blake J. Manganelli, F Pisciotta, C Reilly, Mm Tozza, S Schenone, A Fabrizi, Gm Cavallaro, T Vita, G Padua, L Gemignani, F Laurà, M Hughes, Rac Solari, A Pareyson, D Santoro, L Nolano, M Iodice, R Grandis, M Cabrini, I Bertolasi, L Mazzeo, A Majorana, G Vitetta, F Scaioli, V Ciano, C Calabrese, D Quattrone, A Blake, J. 2016 STAMPA http://hdl.handle.net/11567/851189 https://doi.org/10.1111/ene.13079 eng eng Blackwell Publishing Ltd info:eu-repo/semantics/altIdentifier/pmid/27412484 info:eu-repo/semantics/altIdentifier/wos/WOS:000387364300012 volume:23 firstpage:1566 lastpage:1571 numberofpages:6 journal:EUROPEAN JOURNAL OF NEUROLOGY http://hdl.handle.net/11567/851189 doi:10.1111/ene.13079 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84987752669 info:eu-repo/semantics/closedAccess Charcot−Marie−Tooth disease CMT-TRIAAL/CMT-TRAUK CMT1A hereditary neuropathie nerve conduction velocity Neurology Neurology (clinical) info:eu-repo/semantics/article 2016 ftunivgenova https://doi.org/10.1111/ene.13079 2024-01-10T17:38:28Z Background and purpose: Charcot-Marie-Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant since the first years of life, remains fairly stable through the life and does not correlate with disability whereas compound muscular action potential (CMAP) amplitude does. The aim of the present study was to analyze the large amount of electrophysiological data collected in the ascorbic acid trial in Italy and the UK (CMT-TRIAAL/CMT-TRAUK) and to use these data to gain insights into the pathophysiology of NCV in CMT1A. Methods: Baseline electrophysiological data from 271 patients were analysed. Electrophysiological recordings were taken from the motor ulnar, median and peroneal nerves and the sensory ulnar nerve. Distal motor latency (DML), motor (MNCV) and sensory (SNCV) nerve conduction velocity, and amplitudes of CMAPs and sensory action potentials were assessed. Electrophysiological findings were correlated with age of patients at examination and the Charcot–Marie−Tooth Examination Score (CMTES). Results: NCV was markedly and uniformly reduced. CMAP amplitudes were overall reduced but more severely in lower limbs. DML decreased and MNCV and SNCV increased with age of the patients, whereas CMAP amplitudes worsened with age and also correlated with CMTES. Conclusions: This is the largest sample of electrophysiological data obtained so far from CMT1A patients. Axonal degeneration as assessed by means of CMAP amplitude reflected clinical impairment and was consistent with a slowly progressive length-dependent neuropathy. All patients typically had markedly slowed NCV that did, however, slightly increase with age of the patients. The improvement of NCV might depend on myelin thickness remodelling that occurs during the adult life of CMT1A patients. Article in Journal/Newspaper DML Università degli Studi di Genova: CINECA IRIS Charcot ENVELOPE(139.017,139.017,-69.367,-69.367) European Journal of Neurology 23 10 1566 1571 |
institution |
Open Polar |
collection |
Università degli Studi di Genova: CINECA IRIS |
op_collection_id |
ftunivgenova |
language |
English |
topic |
Charcot−Marie−Tooth disease CMT-TRIAAL/CMT-TRAUK CMT1A hereditary neuropathie nerve conduction velocity Neurology Neurology (clinical) |
spellingShingle |
Charcot−Marie−Tooth disease CMT-TRIAAL/CMT-TRAUK CMT1A hereditary neuropathie nerve conduction velocity Neurology Neurology (clinical) Manganelli F Pisciotta C Reilly MM Tozza S Schenone A Fabrizi GM Cavallaro T Vita G Padua L Gemignani F Laurà M Hughes RAC Solari A Pareyson D Santoro L Nolano M Iodice R Grandis M Cabrini I Bertolasi L Mazzeo A Majorana G Vitetta F Scaioli V Ciano C Calabrese D Quattrone A Blake J. Nerve conduction velocity in CMT1A: what else can we tell? |
topic_facet |
Charcot−Marie−Tooth disease CMT-TRIAAL/CMT-TRAUK CMT1A hereditary neuropathie nerve conduction velocity Neurology Neurology (clinical) |
description |
Background and purpose: Charcot-Marie-Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant since the first years of life, remains fairly stable through the life and does not correlate with disability whereas compound muscular action potential (CMAP) amplitude does. The aim of the present study was to analyze the large amount of electrophysiological data collected in the ascorbic acid trial in Italy and the UK (CMT-TRIAAL/CMT-TRAUK) and to use these data to gain insights into the pathophysiology of NCV in CMT1A. Methods: Baseline electrophysiological data from 271 patients were analysed. Electrophysiological recordings were taken from the motor ulnar, median and peroneal nerves and the sensory ulnar nerve. Distal motor latency (DML), motor (MNCV) and sensory (SNCV) nerve conduction velocity, and amplitudes of CMAPs and sensory action potentials were assessed. Electrophysiological findings were correlated with age of patients at examination and the Charcot–Marie−Tooth Examination Score (CMTES). Results: NCV was markedly and uniformly reduced. CMAP amplitudes were overall reduced but more severely in lower limbs. DML decreased and MNCV and SNCV increased with age of the patients, whereas CMAP amplitudes worsened with age and also correlated with CMTES. Conclusions: This is the largest sample of electrophysiological data obtained so far from CMT1A patients. Axonal degeneration as assessed by means of CMAP amplitude reflected clinical impairment and was consistent with a slowly progressive length-dependent neuropathy. All patients typically had markedly slowed NCV that did, however, slightly increase with age of the patients. The improvement of NCV might depend on myelin thickness remodelling that occurs during the adult life of CMT1A patients. |
author2 |
Manganelli, F Pisciotta, C Reilly, Mm Tozza, S Schenone, A Fabrizi, Gm Cavallaro, T Vita, G Padua, L Gemignani, F Laurà, M Hughes, Rac Solari, A Pareyson, D Santoro, L Nolano, M Iodice, R Grandis, M Cabrini, I Bertolasi, L Mazzeo, A Majorana, G Vitetta, F Scaioli, V Ciano, C Calabrese, D Quattrone, A Blake, J. |
format |
Article in Journal/Newspaper |
author |
Manganelli F Pisciotta C Reilly MM Tozza S Schenone A Fabrizi GM Cavallaro T Vita G Padua L Gemignani F Laurà M Hughes RAC Solari A Pareyson D Santoro L Nolano M Iodice R Grandis M Cabrini I Bertolasi L Mazzeo A Majorana G Vitetta F Scaioli V Ciano C Calabrese D Quattrone A Blake J. |
author_facet |
Manganelli F Pisciotta C Reilly MM Tozza S Schenone A Fabrizi GM Cavallaro T Vita G Padua L Gemignani F Laurà M Hughes RAC Solari A Pareyson D Santoro L Nolano M Iodice R Grandis M Cabrini I Bertolasi L Mazzeo A Majorana G Vitetta F Scaioli V Ciano C Calabrese D Quattrone A Blake J. |
author_sort |
Manganelli F |
title |
Nerve conduction velocity in CMT1A: what else can we tell? |
title_short |
Nerve conduction velocity in CMT1A: what else can we tell? |
title_full |
Nerve conduction velocity in CMT1A: what else can we tell? |
title_fullStr |
Nerve conduction velocity in CMT1A: what else can we tell? |
title_full_unstemmed |
Nerve conduction velocity in CMT1A: what else can we tell? |
title_sort |
nerve conduction velocity in cmt1a: what else can we tell? |
publisher |
Blackwell Publishing Ltd |
publishDate |
2016 |
url |
http://hdl.handle.net/11567/851189 https://doi.org/10.1111/ene.13079 |
long_lat |
ENVELOPE(139.017,139.017,-69.367,-69.367) |
geographic |
Charcot |
geographic_facet |
Charcot |
genre |
DML |
genre_facet |
DML |
op_relation |
info:eu-repo/semantics/altIdentifier/pmid/27412484 info:eu-repo/semantics/altIdentifier/wos/WOS:000387364300012 volume:23 firstpage:1566 lastpage:1571 numberofpages:6 journal:EUROPEAN JOURNAL OF NEUROLOGY http://hdl.handle.net/11567/851189 doi:10.1111/ene.13079 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84987752669 |
op_rights |
info:eu-repo/semantics/closedAccess |
op_doi |
https://doi.org/10.1111/ene.13079 |
container_title |
European Journal of Neurology |
container_volume |
23 |
container_issue |
10 |
container_start_page |
1566 |
op_container_end_page |
1571 |
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1789965114796933120 |