Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation

Lee, Yi‐Chung; Soong, Bing‐Wen; Liu, Yo‐Tsen; Lin, Kon‐Ping; Kao, Ker-Pei; Wu, Zin-An

doi:10.1007/s00415-005-0621-6

Cited by 9 publications

(6 citation statements)

References 34 publications

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“…We searched the PubMed database using the terms "MPZ" and "Chinese" and excluded patients who may have been associated with previous reports based on the research team and publication time. We then summarized the MPZ mutational spectra and clinical characteristics of 35 families of unrelated Chinese origin (9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). The total mutations summarized in the Chinese patients with MPZ mutations are shown in Table 3.…”

Section: Discussionmentioning

confidence: 99%

“…Previous studies have shown that the spectra and frequencies of MPZ mutations in Caucasian and Japanese cohorts are different (7). Several studies have reported Chinese patients with MPZ mutations, but it is currently unknown whether there are differences in the spectra of MPZ mutations between Chinese and other ethnicities (9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). Herein, we report the mutational spectrum and clinical features of six unrelated Chinese families with MPZ in our hospital over a 7 years period.…”

Section: Introductionmentioning

confidence: 94%

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Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients

et al. 2021

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Mutations in the myelin protein zero gene are responsible for the autosomal dominant Charcot-Marie-Tooth disease (CMT). We summarized the genetic and clinical features of six unrelated Chinese families and the genetic spectrum of Chinese patients with myelin protein zero (MPZ) mutations. Our study reports data from a group of Chinese patients consisting of five males and one female with the age of disease onset ranging from 16 to 55 years. The initial symptom in all the patients was the weakness of the lower limbs. Electrophysiological presentations suggested chronic progressive sensorimotor demyelinating polyneuropathy. Overall six mutations were identified in the cohort, including four known mutations [c.103G>T (p.D35Y), c.233C>T (p.S78L), c.293G>A (p.R98H), and c.449-1G>T], and two novel mutations [c.67+4A>G with a mild CMT1B phenotype, and (c.79delG) p.A27fs with a rapidly progressive CMT1B phenotype]. According to the literature review, there are 35 Chinese families with 28 different MPZ mutations. The MPZ mutational spectrum in Chinese patients is very heterogeneous and differs from that of Japanese and Korean individuals, although they do share several common hot spot mutations.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 94%

Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients

et al. 2021

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“…Colocalization of P 0 R98H, P 0 S233fs, and P 0 R98C with ER is indicated by the presence of yellow color in the merged images (c, f, i). Co-localization of P 0 R98C with Golgi is indicated by the presence of yellow color in the merged image (l) R98H presented as CMT1B with a mean median MNCV above 15 m/s [17]. These results suggest that alteration in the intracellular trafficking is not the only determinant of the observed clinical phenotypes.…”

Section: Discussionmentioning

confidence: 91%

“…Four of these MPZ mutations were identified from our previous investigations, including c. Table 1. P 0 S63F, R98H, R227S and S233fs are associated with CMT1 [17,18], P 0 I30T and R98C with DSS [2,20], and P 0 S44F, D75V and T124M with CMT2 [3,19]. All newly generated plasmids were verified by sequence analyses on both strands.…”

Section: Preparation Of Wild Type and Mutant Mpz Clonesmentioning

confidence: 99%

Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes

et al. 2010

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Mutations in MPZ, which encodes myelin protein zero (P(0)), may lead to different subtypes of Charcot-Marie-Tooth disease (CMT). The aim of this study was to characterize the cellular manifestations of various MPZ mutations associated with CMT1, Dejerine-Sottas syndrome (DSS) and CMT2, and to correlate their cellular and clinical phenotypes. Nine P(0) mutants associated with CMT1 (P(0)S63F, R98H, R277S, and S233fs), DSS (P(0) I30T and R98C), and CMT2 (P(0)S44F, D75V, and T124M), were investigated. Wild-type and mutant P(0) fused with fluorescent proteins were expressed in vitro to monitor their intracellular localization. An adhesiveness assay was used to evaluate the adhesiveness of the transfected cells. Protein localization and cell adhesiveness of each mutant protein were compared and correlated with their clinical phenotypes. Three different intracellular localization patterns of the mutant P(0) were observed. Wild-type P(0), P(0)I30T, S44F, S63F, D75V, T124M, and R227S were mostly localized on the cell membrane, P(0)R98H, and R98C were found in the endoplasmic reticulum (ER) or Golgi apparatus, and P(0)S233fs formed aggregates within the ER. Cells expressing mutant P(0), as compared with those expressing wild-type P(0), demonstrated variable degrees of reduction in the cell adhesiveness. The molecular patho-mechanisms of MPZ mutations are likely very complex and the clinical phenotype must be influenced by many genetic or environmental factors. This complexity may contribute to the highly variable clinical manifestations resulting from different MPZ mutations.

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“…13 Twenty patients with MPZ mutations were enrolled as the CMT1B group, and most of these subjects had previously been described in an earlier study. 14 NCSs were performed by standard techniques utilizing a Medelec MS25 electromyograph (Mistro, Surrey, U.K.) with surface electrode stimulations and recordings. 15 Distal and proximal motor latencies and CMAP amplitudes were recorded from the median, ulnar, peroneal, and tibial nerves in the subjects studied.…”

Section: Subjectsmentioning

confidence: 99%

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

Huang¹,

Lin²,

Chang³

et al. 2012

Journal of the Chinese Medical Association

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This study provides basic electrophysiological knowledge about CMT1A in Taiwan. The findings also suggest that the electrophysiological variability in the CMT1A cohort may be at least partially attributable to unknown genetic factors. These data emphasize the role of MNCV in the clinical assessment of CMT1A. A median or ulnar MNCV below 38 m/s can be a sensitive criterion for supporting the diagnosis of CMT1A. A median MNCV can sometimes help to distinguish CMT1A from CMT1B, and CMT1A should be considered in patients with median MNCVs near or above 24 m/s. Moreover, the MNCV may to some degree reflect the severity of CMT1A.

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Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation

Abstract: There was concordance between median MNCV and specific MPZ mutations. However, median MNCV is not an ideal measure with which to distinguish CMT1B patients with MPZ mutations from CMT1A patients with PMP22 mutations.

Cited by 9 publications

References 34 publications

Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients

Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients

Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes

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

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