Electrophysiological characterization of Charcot–Marie–Tooth disease type 1A in Taiwan

Huang, Lih-Wen; Lin, Kon‐Ping; Chang, Ming-Hong; Liao, Yi‐Chu; Liao, Kwong‐Kum; Soong, Bing‐Wen; Lee, Yi‐Chung

doi:10.1016/j.jcma.2012.03.005

Cited by 5 publications

(3 citation statements)

References 22 publications

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“…It is of interest that, although these findings have already been noted in previous reports [2,11], the current notion is that NCV does not change significantly through the life of CMT1A patients [7][8][9]. Birouk and colleagues found in their large sample of CMT1A patients that NCV increased with age and they interpreted the more evident lower NCV in younger patients as an expression of early diagnosis in younger CMT1A patients due to their more severe symptoms [2].…”

Section: Discussionmentioning

confidence: 68%

Nerve conduction velocity in CMT1A: what else can we tell?

Manganelli

Pisciotta

Reilly

et al. 2016

Euro J of Neurology

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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.

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Section: Discussionmentioning

confidence: 68%

Nerve conduction velocity in CMT1A: what else can we tell?

Manganelli

Pisciotta

Reilly

et al. 2016

Euro J of Neurology

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“…In the proband, the severe course and the results of the neurophysiological findings suggested the diagnosis of CMT type 1. Differentiation between CMT1 and CTM2 is not easy since both the two demyelinating and axonal types share some feature in common with the exception in the case of CMT2 of a less severe course of the symptoms and the findings of nerve conduction velocity which are usually not involved or only partially [ 6 – 8 ]. The proband showed two additional signs: congenital severe inguinal hernia that required a rapid surgical correction and a cranial neuropathy causing bilateral sensorineural hearing loss, which was treated with cochlear implantation.…”

Section: Discussionmentioning

confidence: 99%

Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis—Literature Review

Comella

Collotta

Pavone

et al. 2022

Case Reports in Pediatrics

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Charcot- Marie- Tooth (CMT) disease includes a group of clinically and genetically heterogeneous neuropathic disorders with an estimated frequency of 1 on 2.500 individuals. CMTs are differently classified according to the age of onset, type of inheritance, and type of inheritance plus clinical features. For these disorders, more than 100 genes have been implicated as causal factors, with mutations in the PMP22 being one of the most common. The demyelinating type (CMT1) affects more than 30% of the CMTs patients and manifests with motor and sensory dysfunctions of the peripheral nervous system mainly starting with slow progressive weakness of the lower extremities. We report here a 12 year- old boy presenting with typical features of CMT1 type, hearing impairment, and inguinal hernia who at the next-generation sequence analysis displayed a concomitant presence of two variants: the c.233 C>T p.Ser 78Leu of the MPZ gene (NM_000530.6) characterized as pathogenetic and the c.1403 G>A p.Arg 468His of the MFN2 gene (NM_014874.3) characterized as VUS. Concomitant variant mutations in CMTs have been uncommonly reported. The role of these gene mutations on the clinical expression and a literature review on this topic is discussed.

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“…Dejerine-Sottas syndrome [ 5 , 6 ], or onset in the late adulthood, has been described occasionally. The motor nerve conduction velocity (MNCV) in median nerves reduces severely [ 2 , 7 ] but slightly increases with the age of MNCV, potentially due to myelin thickness remodeling that occurs later in CMT1A patients [ 8 ]. Previous studies have shown that the compound muscle action potential amplitude (CMAP) was reduced from an early age, and its typical increase with age was attenuated [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort

Zhang

et al. 2017

BioMed Research International

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Charcot-Marie-Tooth 1A (CMT1A) caused by peripheral myelin protein 22 (PMP22) gene duplication is the most common form of hereditary polyneuropathy. Twenty-four genetically confirmed CMT1A patients with sural nerve biopsies were enrolled in this study. The clinical picture included a great variability of phenotype with mean onset age of 22.2 ± 14.5 years (1–55 years). Pathologically, we observed a severe reduction in myelinated fiber density showing three types of changes: pure onion bulb formation in 3 cases (12.5%), onion bulb formation with axonal sprouts in 10 cases (41.7%), and focally thickened myelin with onion bulb formation or/and axonal sprouts in 11 cases (45.8%). We observed no significant correlation between nerve fiber density and disease duration. There was no significant difference between the 3 pathological types in terms of clinical manifestations, nerve fiber density, and g-ratio. Our study indicates that there is marked variability in the age of onset of CMT1A, as well as significant pathological changes without deterioration with the development of the disease. Focally thickened myelin is another common morphological feature of demyelination.

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Electrophysiological characterization of Charcot–Marie–Tooth disease type 1A in Taiwan

Cited by 5 publications

References 22 publications

Nerve conduction velocity in CMT1A: what else can we tell?

Nerve conduction velocity in CMT1A: what else can we tell?

Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis—Literature Review

Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort

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