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Page 1
Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.
Barbat du Closel L, Bonello-Palot N, Péréon Y, Echaniz-Laguna A, Camdessanche JP, Nadaj-Pakleza A, Chanson JB, Frachet S, Magy L, Cassereau J, Cintas P, Choumert A, Devic P, Leonard Louis S, Gravier Dumonceau R, Delmont E, Salort-Campana E, Bouhour F, Latour P, Stojkovic T, Attarian S. Barbat du Closel L, et al. Eur J Neurol. 2023 Oct;30(10):3265-3276. doi: 10.1111/ene.15937. Epub 2023 Jul 5. Eur J Neurol. 2023. PMID: 37335503
Demographic, clinical, and nerve conduction data were collected. The severity was assessed by CMT Examination Score (CMTES) and Overall Neuropathy Limitations Scale (ONLS) scores. ...
Demographic, clinical, and nerve conduction data were collected. The severity was assessed by CMT Examination Score (CMTES) and Overa …
Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure.
Mandarakas MR, Eichinger KJ, Bray P, Cornett KMD, Shy ME, Reilly MM, Ramdharry GM, Scherer SS, Pareyson D, Estilow T, McKay MJ; for ACT-CMT Study Group; Herrmann DN, Burns J. Mandarakas MR, et al. Neurology. 2024 Feb 13;102(3):e207963. doi: 10.1212/WNL.0000000000207963. Epub 2024 Jan 18. Neurology. 2024. PMID: 38237108
BACKGROUND AND OBJECTIVES: Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of PMP22, is the most common hereditary peripheral neuropathy. For participants with CMT1A, few clinical trials have been performed; however, multiple therapies ha …
BACKGROUND AND OBJECTIVES: Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of PMP22, is the most common hereditary …
Comparative neurological safety of fluoroquinolones versus therapeutic alternatives.
Ellis DE, Hubbard RA, Willis AW, Zuppa AF, Zaoutis TE, Hennessy S. Ellis DE, et al. Pharmacoepidemiol Drug Saf. 2021 Jun;30(6):797-805. doi: 10.1002/pds.5219. Epub 2021 Mar 23. Pharmacoepidemiol Drug Saf. 2021. PMID: 33655544 Free PMC article.
PURPOSE: To evaluate the safety of fluoroquinolones with regard to risk of diagnosed neurological dysfunction. METHODS: We conducted a propensity score-matched inception cohort study using claims data from a commercially insured population. ...Cox proportional hazards mode …
PURPOSE: To evaluate the safety of fluoroquinolones with regard to risk of diagnosed neurological dysfunction. METHODS: We conducted a prope …
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.
Subréville M, Bonello-Palot N, Yahiaoui D, Beloribi-Djefaflia S, Fernandes S, Stojkovic T, Cassereau J, Péréon Y, Echaniz-Laguna A, Violleau MH, Soulages A, Louis SL, Masingue M, Magot A, Delmont E, Sacconi S, Adams D, Labeyrie C, Genestet S, Noury JB, Chanson JB, Lévy N, Juntas-Morales R, Tard C, Sole G, Attarian S. Subréville M, et al. Eur J Neurol. 2021 Sep;28(9):2913-2921. doi: 10.1111/ene.14948. Epub 2021 Jun 29. Eur J Neurol. 2021. PMID: 34060176
Three groups were identified according to the age at disease onset. CMT Examination Score (CMTES) tended to be higher in the early (22 years) and adult (23-47 years) onset groups (mean CMTESv2 = 10.4 and 10.0, respectively) than in the late onset group (>47 years, mean …
Three groups were identified according to the age at disease onset. CMT Examination Score (CMTES) tended to be higher in the early (2 …
Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy.
Tamanna N, Pi BK, Lee AJ, Kanwal S, Choi BO, Chung KW. Tamanna N, et al. Genes (Basel). 2024 Apr 11;15(4):485. doi: 10.3390/genes15040485. Genes (Basel). 2024. PMID: 38674419 Free PMC article.
This study was performed to find GNE mutations in six independent distal myopathy patients with or without peripheral neuropathy using whole-exome sequencing (WES). In silico pathogenic prediction and simulation of 3D structural changes were performed for the mutant GNE pr …
This study was performed to find GNE mutations in six independent distal myopathy patients with or without peripheral neuropathy using whole …
HDAC6 Inhibition Corrects Electrophysiological and Axonal Transport Deficits in a Human Stem Cell-Based Model of Charcot-Marie-Tooth Disease (Type 2D).
Smith AST, Kim JH, Chun C, Gharai A, Moon HW, Kim EY, Nam SH, Ha N, Song JY, Chung KW, Doo HM, Hesson J, Mathieu J, Bothwell M, Choi BO, Kim DH. Smith AST, et al. Adv Biol (Weinh). 2022 Feb;6(2):e2101308. doi: 10.1002/adbi.202101308. Epub 2021 Dec 26. Adv Biol (Weinh). 2022. PMID: 34958183 Free PMC article.
Charcot-Marie-Tooth disease type 2D (CMT2D), is a hereditary peripheral neuropathy caused by mutations in the gene encoding glycyl-tRNA synthetase (GARS1). Here, human induced pluripotent stem cell (hiPSC)-based models of CMT2D bearing mutations in GARS1 and …
Charcot-Marie-Tooth disease type 2D (CMT2D), is a hereditary peripheral neuropathy caused by mutations in the gene enco …
Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy.
Houlden H, Reilly MM, Smith S. Houlden H, et al. Eye (Lond). 2009 Apr;23(4):966-74. doi: 10.1038/eye.2008.221. Epub 2008 Jul 18. Eye (Lond). 2009. PMID: 18636082
AIM: To investigate and correlate the frequency and types of pupil abnormalities that are associated with hereditary peripheral neuropathy in a large cohort of patients prospectively examined. ...The results describe the pupil abnormalities that were frequent …
AIM: To investigate and correlate the frequency and types of pupil abnormalities that are associated with hereditary peripheral …
Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial.
Micallef J, Attarian S, Dubourg O, Gonnaud PM, Hogrel JY, Stojkovic T, Bernard R, Jouve E, Pitel S, Vacherot F, Remec JF, Jomir L, Azabou E, Al-Moussawi M, Lefebvre MN, Attolini L, Yaici S, Tanesse D, Fontes M, Pouget J, Blin O. Micallef J, et al. Lancet Neurol. 2009 Dec;8(12):1103-10. doi: 10.1016/S1474-4422(09)70260-1. Epub 2009 Oct 7. Lancet Neurol. 2009. PMID: 19818690 Clinical Trial.
BACKGROUND: Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary peripheral neuropathy that affects roughly one in 5000 births. ...The primary outcome was the Charcot-Marie-Tooth disease neuropathy score (CMTNS) at 12 months. Analysis was by int …
BACKGROUND: Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary peripheral neuropathy that affects roughly one …
PMP22 overexpression causes dysmyelination in mice.
Robaglia-Schlupp A, Pizant J, Norreel JC, Passage E, Sabéran-Djoneidi D, Ansaldi JL, Vinay L, Figarella-Branger D, Lévy N, Clarac F, Cau P, Pellissier JF, Fontés M. Robaglia-Schlupp A, et al. Brain. 2002 Oct;125(Pt 10):2213-21. doi: 10.1093/brain/awf230. Brain. 2002. PMID: 12244079
Charcot-Marie-Tooth (CMT) disease is the most frequent hereditary peripheral neuropathy in humans. Its prevalence is about one in 2500. ...The largest axons are the most affected. Only a few demyelination/remyelination processes were observed. Moreover …
Charcot-Marie-Tooth (CMT) disease is the most frequent hereditary peripheral neuropathy in humans. Its prevalence is ab …
Heterozygosity for CMT Type 4 Predicts a Severe Vincristine-induced Polyneuropathy Phenotype: A Case Report and Review of Literature.
Sy A, Cheng J, Cooper R, Mueller L. Sy A, et al. J Pediatr Hematol Oncol. 2019 Jan;41(1):e41-e43. doi: 10.1097/MPH.0000000000001230. J Pediatr Hematol Oncol. 2019. PMID: 29877907 Review.
Severe peripheral neuropathy is generally rare, but its effects become additive when given to patients with undiagnosed hereditary peripheral neuropathy such as Charcot-Marie-Tooth. We report a case of an effect of VCR administration given to a patient who de …
Severe peripheral neuropathy is generally rare, but its effects become additive when given to patients with undiagnosed hereditary …