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Charcot neuropathy

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https://www.readbyqxmd.com/read/27908631/confirmation-of-the-gnb4-gene-as-causal-for-charcot-marie-tooth-disease-by-a-novel-de-novo-mutation-in-a-czech-patient
#1
Laššuthová Petra, Šafka Brožková Dana, Neupauerová Jana, Krůtová Marcela, Mazanec Radim, Seeman Pavel
The association of GNB4 with Charcot-Marie-Tooth (CMT) has recently been described in a publication by Soong et al. (Soong, et al., 2013). Here we present a patient with CMT in whom whole exome sequencing identified the mutation p.Lys57Glu in the GNB4 gene (NM_021629.3:c.169A>G). The patient, now 41 years old, is a sporadic case in the family. At the age of 35 he presented with severe disability (CMT neuropathy score 29), profound muscle atrophies, pes cavus and scoliosis. Previously, the patient was tested for PMP22 duplications/deletions and later also with 64 CMT gene panel, with no causal variant found...
September 22, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27907123/mice-hemizygous-for-a-pathogenic-mitofusin-2-allele-exhibit-hind-limb-foot-gait-deficits-and-phenotypic-perturbations-in-nerve-and-muscle
#2
Peter Bannerman, Travis Burns, Jie Xu, Laird Miers, David Pleasure
Charcot-Marie-Tooth disease type 2A (CMT2A), the most common axonal form of hereditary sensory motor neuropathy, is caused by mutations of mitofusin-2 (MFN2). Mitofusin-2 is a GTPase required for fusion of mitochondrial outer membranes, repair of damaged mitochondria, efficient mitochondrial energetics, regulation of mitochondrial-endoplasmic reticulum calcium coupling and axonal transport of mitochondria. We knocked T105M MFN2 preceded by a loxP-flanked STOP sequence into the mouse Rosa26 locus to permit cell type-specific expression of this pathogenic allele...
2016: PloS One
https://www.readbyqxmd.com/read/27871408/the-biology-of-bone-and-ligament-healing
#3
REVIEW
Jessica A Cottrell, Jessica Cardenas Turner, Treena Livingston Arinzeh, J Patrick O'Connor
This review describes the normal healing process for bone, ligaments, and tendons, including primary and secondary healing as well as bone-to-bone fusion. It depicts the important mediators and cell types involved in the inflammatory, reparative, and remodeling stages of each healing process. It also describes the main challenges for clinicians when trying to repair bone, ligaments, and tendons with a specific emphasis on Charcot neuropathy, fifth metatarsal fractures, arthrodesis, and tendon sheath and adhesions...
December 2016: Foot and Ankle Clinics
https://www.readbyqxmd.com/read/27866730/hereditary-neuropathies-an-update
#4
REVIEW
T Stojkovic
Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average prevalence ranging from 1/2500 to 1/1200, depending on the studies. To date and with the advances of the latest generation sequencing, more than 80 genes have been identified. Although the common clinical phenotype comprises a progressive distal muscle weakness and sensory loss, foot deformities and decreased or absent tendon reflexes, clinical and electrophysiological phenotypes exhibit great variability...
December 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27865316/soft-tissue-reconstruction-pyramid-for-the-diabetic-charcot-foot
#5
REVIEW
Claire M Capobianco, Thomas Zgonis
Foot and ankle ulcerations in patients with diabetic Charcot neuroarthropathy (DCN) occur frequently and can be challenging to address surgically when conservative care fails. Patients with acute or chronic diabetic foot ulcers (DFU) are at continued risk for development of osteomyelitis, septic arthritis, gas gangrene, and potential lower extremity amputation. Concurrent vasculopathy and peripheral neuropathy as well as uncontrolled medical comorbidities complicate the treatment approach. In addition, pathomechanical forces left untreated may contribute to DFU recurrence in this patient population...
January 2017: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/27865311/conservative-and-pharmacologic-treatments-for-the-diabetic-charcot-foot
#6
REVIEW
Nina L Petrova, Michael E Edmonds
Charcot neuroarthropathy is a disabling complication of diabetic neuropathy. Prolonged immobilization in a total contact cast (TCC) is among the main treatments. Education of health care professionals in the application of TCC together with well-conducted clinical trials are required to overcome its frequent underuse. There are no established pharmacologic therapies to treat this condition; however, there is an overwhelming need for a new therapeutic approach. Novel targeted drug delivery systems are required to prevent the pathologic bone and joint destruction of the Charcot neuroarthropathy and this may lead to an improved outcome in diabetic patients with this condition...
January 2017: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/27865310/the-diabetic-charcot-foot-from-1936-to-2016-eighty-years-later-and-still-growing
#7
REVIEW
Crystal L Ramanujam, Thomas Zgonis
Knowledge of diabetic Charcot neuroarthropathy (DCN) has grown tremendously since this condition was first described in 1936 by William Riely Jordan. Despite advancements in diagnostic approaches and treatment options making DCN limb salvage a more viable option, ongoing and additional research is needed to determine the definitive pathogenesis, which may aid in prevention of the condition. This article chronicles the main developments for the study and management of DCN since 1936 and recommends using the term diabetic Charcot-Jordan foot when specifically managing foot and ankle neuroarthropathy joints in patients with diabetic neuropathy...
January 2017: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/27863489/the-effect-of-cumulative-glycemic-burden-on-the-incidence-of-diabetic-foot-disease
#8
Robert G Dekker, Charles Qin, Bryant S Ho, Anish R Kadakia
BACKGROUND: Glycemic control is a known modifiable risk factor for diabetic foot disease. Prior attempts to define its relationship with diabetic foot ulcer and Charcot arthropathy fail to account for variability in control and duration of diabetic disease. We developed a novel metric to reflect aggregate disease exposure in a diabetic, termed cumulative glycemic burden. We hypothesized that it would be positively associated with both diabetic foot ulcer and radiographically diagnosed Charcot arthropathy...
November 18, 2016: Journal of Orthopaedic Surgery and Research
https://www.readbyqxmd.com/read/27863451/cerebral-white-matter-abnormalities-in-patients-with-charcot-marie-tooth-disease
#9
Mina Lee, Chang-Hyun Park, Hwa-Kyung Chung, Hyeon Jin Kim, Yunseo Choi, Jeong Hyun Yoo, Young Chul Yoon, Young Bin Hong, Ki Wha Chung, Byung-Ok Choi, Hyang Woon Lee
Here, we report the structural evidence of cerebral white matter abnormalities in Charcot-Marie-Tooth (CMT) patients and the relationship between these abnormalities and clinical disability. Brain diffusion tensor imaging (DTI) was performed in CMT patients with demyelinating (CMT1A/CMT1E), axonal (CMT2A/CMT2E), or intermediate (CMTX1/DI-CMT) peripheral neuropathy. Although all patients had normal brain MRI, all genetic subgroups except CMT1A had abnormal DTI findings indicative of significant cerebral white matter abnormalities: decreased fractional anisotropy and axial diffusivity, and increased radial diffusivity...
November 18, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27862672/clinical-and-genetic-spectra-of-charcot-marie-tooth-disease-in-chinese-han-patients
#10
Bo Sun, Zhaohui Chen, Li Ling, Fei Yang, Xusheng Huang
Charcot-Marie-Tooth disease (CMT) is a common hereditary motor and sensory neuropathy. Epidemiological data for Chinese CMT patients are few. This study aimed to analyze the electrophysiological and genetic characteristics of Chinese Han patients. 106 unrelated patients with the clinical diagnosis of CMT were included. Clinical examination, nerve conduction studies (NCS), next-generation sequencing (NGS), and bioinformatic analyses were performed. Genetic testing was performed for 82 patients; 27 (33%) patients carried known CMT-associated gene mutations...
November 8, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27859025/modeling-drug-induced-neuropathy-using-human-ipscs-for-predictive-toxicology
#11
Ryo Ohara, Keiko Imamura, Fukiko Morii, Naohiro Egawa, Kayoko Tsukita, Takako Enami, Ran Shibukawa, Toshiki Mizuno, Masanori Nakagawa, Haruhisa Inoue
Drugs under development can cause unpredicted toxicity in humans due to differential drug responsiveness between humans and other disease models, resulting in clinical trial failures. Human induced pluripotent stem cells (iPSCs) are expected to represent a useful tool for toxicity testing. However, among many assays, appropriate cellular assays for predicting neurotoxicity in an iPSC-based model are still uncertain. Here, we generated neurons from iPSCs of Charcot-Marie-Tooth disease (CMT) patients, who are sensitive to anti-cancer drugs and present with the adverse reaction of neuropathy, and analyzed cellular phenotypes...
November 9, 2016: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/27854223/patient-reported-falls-and-balance-confidence-in-individuals-with-charcot-marie-tooth-disease
#12
Katy Eichinger, Karen Odrzywolski, Janet Sowden, David N Herrmann
The purpose of this exploratory pilot study was to assess balance confidence in adults with CMT. Charts of individuals with CMT followed in the peripheral neuropathy clinic were reviewed. Information abstracted included demographic, assistive device use, falls, pain, strength, Activities-specific Balance Confidence score, Lower Extremity Functional Scale, 30' Go, and the Five Times Sit to Stand Test. Balance confidence was found to be decreased in individuals with CMT and was associated with patient report of falls and functional mobility tests...
May 27, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27854215/characterization-of-new-transgenic-mouse-models-for-two-charcot-marie-tooth-causing-hspb1-mutations-using-the-rosa26-locus
#13
Delphine Bouhy, Thomas Geuens, Vicky De Winter, Leonardo Almeida-Souza, Istvan Katona, Joachim Weis, Tino Hochepied, Steven Goossens, Jody J Haigh, Sophie Janssens, Vincent Timmerman
BACKGROUND: Charcot-Marie-Tooth (CMT) and associated neuropathies, the most common inherited diseases of the peripheral nervous system, remain so far incurable. Three existing murine models of Charcot-Marie-Tooth type 2F (CMT2F) and/or distal hereditary motor neuropathy type IIb (dHMNIIb), caused by mutations in the small heat shock protein B1 gene (HSPB1/HSP27), partially recapitulate the hallmarks of peripheral neuropathy. Because these models overexpress the HSPB1 mutant proteins they differ from the patients' situation...
May 27, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27852232/novel-homozygous-missense-mutation-in-gan-associated-with-charcot-marie-tooth-disease-type-2-in-a-large-consanguineous-family-from-israel
#14
Sharon Aharoni, Katy E S Barwick, Rachel Straussberg, Gaurav V Harlalka, Yoram Nevo, Barry A Chioza, Meriel M McEntagart, Aviva Mimouni-Bloch, Michael Weedon, Andrew H Crosby
BACKGROUND: CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) is an autosomal recessively inherited progressive neurodegenerative disorder of the peripheral and central nervous systems, typically diagnosed in early childhood and resulting in death by the end of the third decade...
November 16, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27844031/clinical-and-biophysical-characterization-of-19-gjb1-mutations
#15
Pei-Chien Tsai, De-Ming Yang, Yi-Chu Liao, Tai-Yu Chiu, Hung-Chou Kuo, Yu-Ping Su, Yuh-Cherng Guo, Bing-Wen Soong, Kon-Ping Lin, Yo-Tsen Liu, Yi-Chung Lee
OBJECTIVE: Charcot-Marie-Tooth disease type X1 (CMTX1), which is caused by mutations in the gap junction (GJ) protein beta-1 gene (GJB1), is the second most common form of Charcot-Marie-Tooth disease (CMT). GJB1 encodes the GJ beta-1 protein (GJB1), which forms GJs within the myelin sheaths of peripheral nerves. The process by which GJB1 mutants cause neuropathy has not been fully elucidated. This study evaluated the biophysical characteristics of GJB1 mutants and their correlations with the clinical features of CMTX1 patients...
November 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27816334/pilot-phenotype-and-natural-history-study-of-hereditary-neuropathies-caused-by-mutations-in-the-hspb1-gene
#16
Alexander M Rossor, Jasper M Morrow, James M Polke, Sinead M Murphy, Henry Houlden, Matilde Laura, Hadi Manji, Julian Blake, Mary M Reilly
Mutations in HSPB1 are one of the commonest causes of distal Hereditary Motor Neuropathy (dHMN). Transgenic mouse models of the disease have identified HDAC6 inhibitors as promising treatments for the condition paving the way for human trials. A detailed phenotype and natural history study of HSPB1 neuropathy is therefore required in order to inform the duration and outcome measures of any future trials. Clinical and neurophysiological data and lower limb muscle MRI were collected both prospectively and retrospectively from patients with mutations in HSPB1...
October 8, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27807175/ablation-of-perk-in-schwann-cells-improves-myelination-in-the-s63del-charcot-marie-tooth-1b-mouse
#17
Mariapaola Sidoli, Nicolò Musner, Nicholas Silvestri, Daniela Ungaro, Maurizio D'Antonio, Douglas R Cavener, M Laura Feltri, Lawrence Wrabetz
: In factory cells, the accumulation of misfolded protein provokes the unfolded protein response (UPR). For example, deletion of serine 63 (S63del) in myelin protein zero (P0) induces P0 accumulation in the endoplasmic reticulum (ER) of Schwann cells and a persistent UPR associated with Charcot-Marie-Tooth 1B (CMT1B) demyelinating peripheral neuropathy in human and mouse. PERK (protein kinase RNA-like ER kinase) is the ER stress sensor that attenuates global translation by phosphorylating eIF2α...
November 2, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27799291/niacin-mediated-tace-activation-ameliorates-cmt-neuropathies-with-focal-hypermyelination
#18
Alessandra Bolino, Françoise Piguet, Valeria Alberizzi, Marta Pellegatta, Cristina Rivellini, Marta Guerrero-Valero, Roberta Noseda, Chiara Brombin, Alessandro Nonis, Patrizia D'Adamo, Carla Taveggia, Stefano Carlo Previtali
Charcot-Marie-Tooth (CMT) neuropathies are highly heterogeneous disorders caused by mutations in more than 70 genes, with no available treatment. Thus, it is difficult to envisage a single suitable treatment for all pathogenetic mechanisms. Axonal Neuregulin 1 (Nrg1) type III drives Schwann cell myelination and determines myelin thickness by ErbB2/B3-PI3K-Akt signaling pathway activation. Nrg1 type III is inhibited by the α-secretase Tace, which negatively regulates PNS myelination. We hypothesized that modulation of Nrg1 levels and/or secretase activity may constitute a unifying treatment strategy for CMT neuropathies with focal hypermyelination as it could restore normal levels of myelination...
December 1, 2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27783406/episodic-weakness-and-charcot-marie-tooth-disease-due-to-a-mitochondrial-mt-atp6-mutation
#19
Francis B Panosyan, Rabi Tawil, David N Herrmann
INTRODUCTION: Episodic muscle weakness is the hallmark of a heterogeneous group of disorders known as periodic paralysis. A majority are due to single nucleotide mutations causing membrane depolarization. METHODS: We report 2 family members with chronic, slowly progressive, distal axonal neuropathy or Charcot-Marie-Tooth disease type 2 (CMT2) and episodic weakness resembling periodic paralysis. RESULTS: Next generation sequencing (NGS) identified a mitochondrial MT-ATP6 mutation m...
October 26, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27774063/a-novel-asp121asn-mutation-of-myelin-protein-zero-is-associated-with-late-onset-axonal-charcot-marie-tooth-disease-hearing-loss-and-pupil-abnormalities
#20
Xiaohui Duan, Weihong Gu, Ying Hao, Renbin Wang, Hong Wen, Shaojie Sun, Jinsong Jiao, Dongsheng Fan
Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves. Mutations in MPZ have been associated with different Charcot-Marie-Tooth disease (CMT) phenotypes (CMT1B, CMT2I/J, CMTDI), Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. Here, we report phenotypic variability in a four-generation Chinese family with the MPZ mutation Asp121Asn. Genetic testing was performed on nine family members and 200 controls. Clinical, electrophysiological and skeletal muscle MRI assessments were available for review in six family members...
2016: Frontiers in Aging Neuroscience
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