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https://www.readbyqxmd.com/read/29780422/cochlear-implantation-in-charcot-marie-tooth-disease-case-report-and-review-of-the-literature
#1
C Lane Anzalone, Sarah Nuhanovic, Amy P Olund, Matthew L Carlson
Introduction: Charcot-Marie-Tooth (CMT) disease is a peripheral hereditary neuropathy associated with motor and sensory impairment and can result in profound sensorineural hearing loss (SNHL). Currently, the role of cochlear implantation in the setting of CMT and other progressive peripheral neurodegenerative disorders is not well established. Methods: Case report and review of the English literature. Results: A 70-year-old male with CMT was referred for evaluation of progressive asymmetric SNHL and reported a 15-year duration of deafness involving the left ear...
2018: Case Reports in Medicine
https://www.readbyqxmd.com/read/29771329/regulation-of-the-neuropathy-associated-pmp22-gene-by-a-distal-super-enhancer
#2
Harrison Pantera, John J Moran, Holly A Hung, Evgenia Pak, Amalia Dutra, John Svaren
Peripheral nerve myelination is adversely affected in the most common form of the hereditary peripheral neuropathy called Charcot-Marie-Tooth Disease. This form, classified as CMT1A, is caused by a 1.4 Mb duplication on chromosome 17, which includes the abundantly expressed Schwann cell myelin gene, Peripheral Myelin Protein 22 (PMP22). This is one of the most common copy number variants causing neurological disease. Overexpression of Pmp22 in rodent models recapitulates several aspects of neuropathy, and reduction of Pmp22 in such models results in amelioration of the neuropathy phenotype...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29746360/laxative-induced-contact-dermatitis
#3
Jennifer E Melvin, Robert W Hickey
A 5-year-old female with Charcot-Marie-Tooth neuropathy and a history of constipation presented to the emergency department with a new blistering buttocks rash, which was initially concerning for nonaccidental burn. Upon further investigation, it was found that Ex-Lax had been given to the patient for constipation. This had resulted in a bowel movement, which led to an irritant dermatitis. The patient was eventually diagnosed with senna-induced erosive diaper dermatitis. This case report highlights the importance of a thorough history and physical examination to prevent an unnecessary child abuse work-up...
May 9, 2018: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29742619/loss-of-function-mutation-in-hippo-suppressed-enlargement-of-lysosomes-and-neurodegeneration-caused-by-dfig4-knockdown
#4
Yukie Kushimura, Yumiko Azuma, Ikuko Mizuta, Yuuka Muraoka, Akane Kyotani, Hideki Yoshida, Takahiko Tokuda, Toshiki Mizuno, Masamitsu Yamaguchi
Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy, and more than 80 CMT-causing genes have been identified to date. CMT4J is caused by a loss-of-function mutation in the Factor-Induced-Gene 4 (FIG4) gene, the product of which plays important roles in endosome-lysosome homeostasis. We hypothesized that Mammalian sterile 20-like kinase (MST) 1 and 2, tumor-suppressor genes, are candidate modifiers of CMT4J. We therefore examined the interaction between dFIG4 and Hippo (hpo), Drosophila counterparts of FIG4 and MSTs, respectively, using the Drosophila CMT4J model with the knockdown of dFIG4...
May 8, 2018: Neuroreport
https://www.readbyqxmd.com/read/29742248/pain-in-charcot-marie-tooth-disease-an-update
#5
Helen Azevedo, Camila Pupe, Rouse Pereira, Osvaldo J M Nascimento
Charcot-Marie-Tooth (CMT) disease, the most common inherited peripheral neuropathy, has pain as one of its clinical features, yet it remains underdiagnosed and undertreated. This literature review assessed data related to pain from CMT to determine its prevalence, type and importance as a symptom, which, unlike other symptoms, is likely to be treated. The research encompassed 2007 to 2017 and included five articles that addressed pain from CMT. All of the papers concurred that pain is frequently present in CMT patients, yet its classification remains undefined as there has been no consensus in the literature about the mechanisms that cause it...
April 2018: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29729827/association-of-mir-149-polymorphism-with-onset-age-and-severity-in-charcot-marie-tooth-disease-type-1a
#6
Soo Hyun Nam, Sumaira Kanwal, Da Eun Nam, Min Hee Lee, Tae Hoon Kang, Sung-Chul Jung, Byung-Ok Choi, Ki Wha Chung
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by 1.5-fold increased dosage of the PMP22; however, onset age and severity vary considerably among patients. The exact reason behind these phenotypic heterogeneities has rarely been discovered yet. Because miRNAs are the key regulators of gene expression, we speculated that variants of miRNAs might be the genetic modifiers for CMT1A. This study noticed a common single nucleotide polymorphism (n.86T > C, rs2292832) in the miR-149 which was predicted to target several CMT causing genes including PMP22...
April 11, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29729594/motor-unit-number-index-correlates-with-disability-in-charcot-marie-tooth-disease
#7
Joachim Bas, Emilien Delmont, Farzad Fatehi, Emmanuelle Salort-Campana, Annie Verschueren, Jean Pouget, Marie-Noëlle Lefebvre, Aude-Marie Grapperon, Shahram Attarian
OBJECTIVE: The aim of this study was to assess the usefulness of motor unit number index (MUNIX) technique in Charcot-Marie-Tooth disease and test the correlation between MUNIX and clinical impairment. METHODS: MUNIX technique was performed in the abductor pollicis brevis (APB), the abductor digiti minimi (ADM) and the tibialis anterior (TA) muscles in the nondominant side. A MUNIX sum score was calculated by adding the MUNIX of these 3 muscles. Muscle strength was measured using the MRC (medical research council) scale...
April 16, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29724652/a-novel-homozygous-ndrg1-mutation-in-a-chinese-patient-with-charcot-marie-tooth-disease-4d
#8
Bin Chen, Songtao Niu, Na Chen, Hua Pan, Xingao Wang, Zaiqiang Zhang
Charcot-Marie-Tooth disease 4D (CMT4D) is characterized by severe peripheral neuropathy and deafness. It is caused by mutations in the N-myc downstream-regulated gene 1 (NDRG1). We report a Chinese man with a homozygous mutation c.675C > T of NDRG1 that resulted in Q185X, representing the third known CMT4D patient of non-European ancestry. The patient presented with a 15-year-long history of progressive limb weakness accompanied by hearing loss and dysarthria. There was abnormal differentiation and increased interpeak latencies in brainstem auditory evoked potentials...
April 30, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29720545/multifocal-demyelinating-motor-neuropathy-and-hamartoma-syndrome-associated-with-a-de-novo-pten-mutation
#9
Boglarka Bansagi, Vietxuan Phan, Mark R Baker, Julia O'Sullivan, Matthew J Jennings, Roger G Whittaker, Juliane S Müller, Jennifer Duff, Helen Griffin, James A L Miller, Grainne S Gorman, Hanns Lochmüller, Patrick F Chinnery, Andreas Roos, Laura E Swan, Rita Horvath
OBJECTIVE: To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog ( PTEN ), a tumor suppressor gene associated with inherited tumor susceptibility conditions, macrocephaly, autism, ataxia, tremor, and epilepsy. Functional implications of this protein have been investigated in Parkinson and Alzheimer diseases. METHODS: We performed whole-exome sequencing in the patient's genomic DNA validated by Sanger sequencing...
May 2, 2018: Neurology
https://www.readbyqxmd.com/read/29718187/mutations-in-coa7-cause-spinocerebellar-ataxia-with-axonal-neuropathy
#10
Yujiro Higuchi, Ryuta Okunushi, Taichi Hara, Akihiro Hashiguchi, Junhui Yuan, Akiko Yoshimura, Kei Murayama, Akira Ohtake, Masahiro Ando, Yu Hiramatsu, Satoshi Ishihara, Hajime Tanabe, Yuji Okamoto, Eiji Matsuura, Takehiro Ueda, Tatsushi Toda, Sumimasa Yamashita, Kenichiro Yamada, Takashi Koide, Hiroaki Yaguchi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Ken Sato, Masanori Nakagawa, Masamitsu Yamaguchi, Shoji Tsuji, Hiroshi Takashima
Several genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochrome c oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations in COA7 among a Japanese case series of 1396 patients with Charcot-Marie-Tooth disease (CMT) or other inherited peripheral neuropathies, including complex forms of CMT...
April 27, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29710024/-transient-recurrent-white-matter-lesions-in-x-linked-charcot-marie-tooth-disease-with-heterozygote-mutation-of-gjb1-gene-case-report-of-a-female-patient
#11
Makoto Takemaru, Yutaka Shimoe, Kota Sato, Akihiro Hashiguchi, Hiroshi Takashima, Masaru Kuriyama
A 32-year-old woman showed transient central type facial nerve palsy and bulbar symptoms. Brain MRI revealed high intensity signals in the cerebral white matter, splenium of corpus callosum, and posterior limb of internal capsule. Two elder brothers of the patient had distal dominant peripheral neuropathies in four limbs. In this family, the point mutation of GJB1 gene, encoding connexin 32, was revealed and X-linked Charcot-Marie-Tooth disease (CMTX1) was diagnosed. The presented case was a heterozygote of this mutation...
April 28, 2018: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29696112/epidural-anesthesia-combined-with-light-general-anesthesia-for-a-juvenile-with-charcot-marie-tooth-disease-undergoing-corrective-spine-surgery-a-case-report
#12
Amir Poya Zanjani, Azam Ghorbani, Babak Eslami, Babak Mirzashahi
General anesthesia (GA) is associated with serious concerns in advanced cases of Charcot-Marie-Tooth (CMT). Despite several benefits of applying regional anesthesia (RA), recommendation for RA is controversial in CMT due to insufficient supporting documents and trials. We report combined epidural/general anesthesia for a 12-year-old boy with CMT disease undergoing major spine corrective surgery. This manuscript is presented not only to evaluate the costs and benefits of RA, but also to highlight the safety of neuraxial anesthesia and emphasis on the broad potential role of RA to reduce risks of GA in CMT patients...
October 2017: Anesthesiology and Pain Medicine
https://www.readbyqxmd.com/read/29694336/a-role-for-the-gdap1-gene-in-the-molecular-pathogenesis-of-charcot%C3%A2-marie%C3%A2-tooth-disease
#13
Weronika Rzepnikowska, Andrzej Kochański
In 2002 a series of mutations in the GDAP1 gene were reported in patients suffering from Charcot‑Marie‑Tooth disease manifesting as early-onset, progressive distal‑muscle wasting and weakness. The molecular etiology of Charcot‑Marie‑Tooth ‑GDAP1 disease has been elucidated but its pathogenesis remains unclear, especially given the seemingly contradictory function of the GDAP1 protein. Expression of GDAP1 is observed almost exclusively in neuronal cells, however, the GDAP1 protein is present in mitochondria, where it plays a role in fission, a ubiquitous process occurring in all cells...
2018: Acta Neurobiologiae Experimentalis
https://www.readbyqxmd.com/read/29693294/testing-overwork-weakness-in-charcot-marie-tooth-disease-is-it-true-or-false
#14
Valeria Prada, Laura Mori, Susanna Accogli, Matteo Rivarola, Sara Schizzi, Mernhaz Hamedani, Angelo Schenone
The occurrence of the overwork weakness (OW) in Charcot-Marie-Tooth (CMT) disease has been debated for long time. Especially at the hands level, it is still unclear as to whether OW occurs. Contrasting results may relate to the different muscles groups evaluated and the instruments used. We concentrated to the upper limbs (UL). We recruited 120 subjects, 60 CMT patients and 60 normal controls and evaluated the strength of the tripod pinch and of the hand-grip with a dynamometer, the opposition ability with the Thumb Opposition Test (TOT) and applied an innovative instrumental testing of hand function using the Sensor Engineered Glove Test (SEGT), which previously demonstrated its sensitiveness to measure severity of hands dysfunction in CMT patients...
April 24, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29691480/an-estimation-of-the-prevalence-of-genomic-disorders-using-chromosomal-microarray-data
#15
Madelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, Christian P Schaaf
Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic disorders has not been estimated accurately. A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11...
April 24, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29688489/protective-role-of-the-lipid-phosphatase-fig4-in-the-adult-nervous-system
#16
Yevgeniya A Mironova, Jing-Ping Lin, Ashley Kalinski, Lucas Huffman, Guy M Lenk, Leif A Havton, Miriam H Meisler, Roman J Giger
The signaling lipid phosphatidylinositol 3,5-bisphosphate, PI(3,5)P2, functions in vesicular trafficking through the endo-lysosomal compartment. Cellular levels of PI(3,5)P2 are regulated by an enzyme complex comprised of the kinase PIKFYVE, the phosphatase FIG4, and the scaffold protein VAC14. Mutations of human FIG4 cause inherited disorders including Charcot-Marie-Tooth disease type 4J, polymicrogyria with epilepsy, and Yunis-Varón syndrome. Constitutive Fig4-/- mice exhibit intention tremor, spongiform degeneration of neural tissue, hypomyelination, and juvenile lethality...
April 24, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29687021/myelin-protein-zero-mutations-and-the-unfolded-protein-response-in-charcot-marie-tooth-disease-type-1b
#17
Yunhong Bai, Xingyao Wu, Kathryn M Brennan, David S Wang, Maurizio D'Antonio, John Moran, John Svaren, Michael E Shy
Objective: To determine the prevalence of MPZ mutations that cause Charcot Marie Tooth neuropathy type 1B (CMT1B) and activate the unfolded protein Response (UPR). Background: CMT1B is caused by >200 heterozygous mutations in MPZ , the major protein in peripheral nerve myelin. Mutations Ser63del MPZ and Arg98Cys MPZ cause the mutant protein to be retained in the ER and activate the generally adaptive UPR. Treatments that modulate UPR activation have improved cellular and rodent models of CMT1B raising the possibility that other MPZ mutations that activate the UPR would also respond favorably to similar treatment...
April 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29679921/electromyographic-and-biomechanical-analysis-of-step-negotiation-in-charcot-marie-tooth-subjects-whose-level-walk-is-not-impaired
#18
Tiziana Lencioni, Giuseppe Piscosquito, Marco Rabuffetti, Enrica Di Sipio, Manuela Diverio, Isabella Moroni, Luca Padua, Emanuela Pagliano, Angelo Schenone, Davide Pareyson, Maurizio Ferrarin
BACKGROUND: Charcot-Marie-Tooth (CMT) is a slowly progressive disease characterized by muscular weakness and wasting with a length-dependent pattern. Mildly affected CMT subjects showed slight alteration of walking compared to healthy subjects (HS). RESEARCH QUESTION: To investigate the biomechanics of step negotiation, a task that requires greater muscle strength and balance control compared to level walking, in CMT subjects without primary locomotor deficits (foot drop and push off deficit) during walking...
April 13, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29674596/mfn2-agonists-reverse-mitochondrial-defects-in-preclinical-models-of-charcot-marie-tooth-disease-type-2a
#19
Agostinho G Rocha, Antonietta Franco, Andrzej M Krezel, Jeanne M Rumsey, Justin M Alberti, William C Knight, Nikolaos Biris, Emmanouil Zacharioudakis, James W Janetka, Robert H Baloh, Richard N Kitsis, Daria Mochly-Rosen, R Reid Townsend, Evripidis Gavathiotis, Gerald W Dorn
Mitofusins (MFNs) promote fusion-mediated mitochondrial content exchange and subcellular trafficking. Mutations in Mfn2 cause neurodegenerative Charcot-Marie-Tooth disease type 2A (CMT2A). We showed that MFN2 activity can be determined by Met376 and His380 interactions with Asp725 and Leu727 and controlled by PINK1 kinase-mediated phosphorylation of adjacent MFN2 Ser378 Small-molecule mimics of the peptide-peptide interface of MFN2 disrupted this interaction, allosterically activating MFN2 and promoting mitochondrial fusion...
April 20, 2018: Science
https://www.readbyqxmd.com/read/29674285/evaluation-of-muscle-strength-balance-and-functionality-of-individuals-with-type-2-charcot-marie-tooth-disease
#20
Iandra Maria Pinheiro de França Costa, Paula Santos Nunes, Eduardo Luis de Aquino Neves, Lidiane Carine Lima Santos Barreto, Catarina Andrade Garcez, Cynthia Coelho Souza, Paulo Márcio Pereira Oliveira, Luiz Augusto Sales Ferreira, Viviane Nascimento Brandão Lima, Adriano Antunes de Souza Araújo
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is part of a group of genetically determined neuropathies. The intrinsic muscles of the feet and legs are affected early in the disease, impacting balance and mobility. RESEARCH QUESTION: The purpose of this study was to evaluate individuals with type 2 Charcot-Marie-Tooth disease to understand how motor changes interfere in balance and function. METHODS: The sample comprised 15 individuals with CMT2 from the same family (CMT2G) and a control group (CG) of healthy individuals matched for age and gender...
April 5, 2018: Gait & Posture
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