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Charcot neuropathy

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https://www.readbyqxmd.com/read/29341362/a-novel-mutation-of-lrsam1-in-a-chinese-family-with-charcot-marie-tooth-disease
#1
Guohua Zhao, Jie Song, Mi Yang, Xiuhua Song, Xiaomin Liu
Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy characterized by progressive distal muscle weakness and atrophy with decreased or absent tendon reflexes. Mutations in LRSAM1 have been identified to cause CMT disease type 2P. We report a novel LRSAM1 mutation c.2021-2024del (p.E674VfsX11) in a Chinese autosomal dominant CMT disease type 2 family. The phenotype was characterized by late onset and mild sensory impairment. Electrophysiological findings showed normal or mildly to moderately reduced motor and sensory nerve conduction velocities in lower and upper limb nerves...
January 17, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29341343/small-heat-shock-protein-b3-hspb3-mutation-in-an-axonal-charcot-marie-tooth-disease-family
#2
Da Eun Nam, Soo Hyun Nam, Ah Jin Lee, Young Bin Hong, Byung-Ok Choi, Ki Wha Chung
HSPB3 gene encodes a small heat-shock protein 27-like protein which has a high sequence homology with HSPB1. A mutation in the HSPB3 was reported as the putative underlying cause of distal hereditary motor neuropathy 2C (dHMN2C) in 2010. We identified a heterozygous mutation (c.352T>C, p.Tyr118His) in the HSPB3 from a Charcot-Marie-Tooth disease type 2 (CMT2) family by the method of targeted next generation sequencing. The mutation was located in the well conserved alpha-crystalline domain, and several in silico predictions indicated a pathogenic effect of the mutation...
January 17, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29330367/characterization-of-human-small-heat-shock-protein-hspb1-%C3%AE-crystallin-domain-localized-mutants-associated-with-hereditary-motor-neuron-diseases
#3
Stephen D Weeks, Lydia K Muranova, Michelle Heirbaut, Steven Beelen, Sergei V Strelkov, Nikolai B Gusev
Congenital mutations in human small heat shock protein HSPB1 (HSP27) have been linked to Charcot-Marie-Tooth disease, a commonly occurring peripheral neuropathy. Understanding the molecular mechanism of such mutations is indispensable towards developing future therapies for this currently incurable disorder. Here we describe the physico-chemical properties of the autosomal dominant HSPB1 mutants R127W, S135F and R136W. Despite having a nominal effect on thermal stability, the three mutations induce dramatic changes to quaternary structure...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29326539/microvascular-outcomes-of-pediatric-onset-type-1-diabetes-mellitus-a-single-center-observational-case-reviews-in-sana-a-yemen
#4
Abdallah Ahmed Gunaid
Microvascular complications of pediatric-onset type 1 diabetes are common in low-income countries. In this study, we aimed at reviewing microvascular outcomes in 6 cases with type 1 diabetes over 14 to 31 years of follow-up. Severe proliferative diabetic retinopathy (PDR) and/or diabetic macular edema (maculopathy) (DME) and overt diabetic nephropathy (macroalbuminuria) were seen among 4 of 6 patients, whereas severe diabetic peripheral neuropathy with Charcot neuroarthropathy was seen in 1 patient only, who had the longest duration of follow-up...
2018: Clinical Medicine Insights. Endocrinology and Diabetes
https://www.readbyqxmd.com/read/29321234/plasma-neurofilament-light-chain-concentration-in-the-inherited-peripheral-neuropathies
#5
Åsa Sandelius, Henrik Zetterberg, Kaj Blennow, Rocco Adiutori, Andrea Malaspina, Matilde Laura, Mary M Reilly, Alexander M Rossor
OBJECTIVE: To perform a cross-sectional study to determine whether plasma neurofilament light chain (NfL) concentration is elevated in patients with Charcot-Marie-Tooth disease (CMT) and if it correlates with disease severity. METHODS: Blood samples were collected from 75 patients with CMT and 67 age-matched healthy controls over a 1-year period. Disease severity was measured using the Rasch modified CMT Examination and neuropathy scores. Plasma NfL concentration was measured using an in-house-developed Simoa assay...
January 10, 2018: Neurology
https://www.readbyqxmd.com/read/29315582/a-dual-role-for-integrin-%C3%AE-6%C3%AE-4-in-modulating-hereditary-neuropathy-with-liability-to-pressure-palsies
#6
Yannick Poitelon, Vittoria Matafora, Nicholas Silvestri, Desirée Zambroni, Claire McGarry, Nora Serghany, Thomas Rush, Domenica Vizzuso, Felipe A Court, Angela Bachi, Lawrence Wrabetz, Maria Laura Feltri
Peripheral myelin protein 22 (PMP22) is a component of compact myelin in the peripheral nervous system. The amount of PMP22 in myelin is tightly regulated, and PMP22 over or under-expression cause Charcot-Marie-Tooth 1A (CMT1A) and Hereditary Neuropathy with Pressure Palsies (HNPP). Despite the importance of PMP22, its function remains largely unknown. It was reported that PMP22 interacts with the β4 subunit of the laminin receptor α6β4 integrin, suggesting that α6β4 integrin and laminins may contribute to the pathogenesis of CMT1A or HNPP...
January 8, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29311740/publisher-correction-molecular-mechanisms-of-charcot-marie-tooth-neuropathy-linked-to-mutations-in-human-myelin-protein-p2
#7
Salla Ruskamo, Tuomo Nieminen, Cecilie K Kristiansen, Guro H Vatne, Anne Baumann, Erik I Hallin, Arne Raasakka, Päivi Joensuu, Ulrich Bergmann, Ilpo Vattulainen, Petri Kursula
A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper.
January 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29300988/nerve-biopsy-is-still-useful-in-some-inherited-neuropathies
#8
Mathilde Duchesne, Stéphane Mathis, Laurence Richard, Corinne Magdelaine, Philippe Corcia, Sonia Nouioua, Meriem Tazir, Laurent Magy, Jean-Michel Vallat
In hereditary neuropathies, next-generation sequencing techniques are producing a vast number of candidate gene mutations that need to be verified or excluded by careful genotype-phenotype correlation analysis. In most cases, clinical acumen is still important but needs to be combined with data from nerve conduction studies and, in some cases, from nerve biopsy examinations. Indeed, characteristic clinical, electrophysiological, and sometimes pathological features may be suggestive of a particular subtype of Charcot-Marie-Tooth (CMT) disease...
December 29, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29299376/aerobic-anti-gravity-exercise-in-patients-with-charcot-marie-tooth-disease-types-1a-and-x-a-pilot-study
#9
Kirsten L Knak, Linda K Andersen, John Vissing
Background: Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy associated with impaired walking capacity. Some patients are too weak in the lower extremity muscles to walk at gravity with sufficient intensity or duration to gain benefit. Aim: The aim was to investigate the effect of aerobic anti-gravity exercise in weak patients with CMT 1A and X. Methods: Five adult patients performed moderate-intensity aerobic anti-gravity exercise 3/week for 10 weeks...
December 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29283951/knee-arthrodesis-in-a-patient-with-charcot-neuroarthropathy-secondary-to-familial-amyloid-polyneuropathy-a-case-report
#10
Tiago Rebelo, João Morais, Francisco Agostinho, Ana Abrantes, Nuno Simões, Inês Simões
CASE: We report a rare case of severe Charcot neuroarthropathy of the knee secondary to familial amyloid polyneuropathy, which was treated surgically with a knee arthrodesis. This treatment allowed an early symptomatic and functional improvement and a short consolidation time without any major complications. CONCLUSION: Neuropathy is the earliest and most major burden in patients with familial amyloid polyneuropathy; it requires careful evaluation and adequate treatment aimed at preventing or slowing the progression of secondary damage, involving Charcot neuroarthropathy, that may occur...
October 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29280898/knee-arthrodesis-in-a-patient-with-charcot-neuroarthropathy-secondary-to-familial-amyloid-polyneuropathy-a-case-report
#11
Tiago Rebelo, João Morais, Francisco Agostinho, Ana Abrantes, Nuno Simões, Inês Simões
CASE: We report a rare case of severe Charcot neuroarthropathy of the knee secondary to familial amyloid polyneuropathy, which was treated surgically with a knee arthrodesis. This treatment allowed an early symptomatic and functional improvement and a short consolidation time without any major complications. CONCLUSION: Neuropathy is the earliest and most major burden in patients with familial amyloid polyneuropathy; it requires careful evaluation and adequate treatment aimed at preventing or slowing the progression of secondary damage, involving Charcot neuroarthropathy, that may occur...
December 27, 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29277257/early-onset-axonal-charcot-marie-tooth-disease-due-to-sacs-mutation
#12
Paulo Victor Sgobbi Souza, Thiago Bortholin, Fernando George Monteiro Naylor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
Axonal Charcot-Marie-Tooth disease (CMT) represents an expanding group of inherited motor and sensory neuropathies in clinical practice. SACS-gene related disorders have been associated with complex neurological phenotypes of early-onset cerebellar ataxia, spastic-ataxia, spastic paraplegia, demyelinating neuropathy and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure axonal neuropathy phenotypes. Two unrelated Brazilian men with early-onset axonal CMT-like presentations associated with SACS gene mutations are presented...
November 24, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29276154/modeling-the-pathogenesis-of-charcot-marie-tooth-disease-type-1a-using-patient-specific-ipscs
#13
Lei Shi, Lihua Huang, Ruojie He, Weijun Huang, Huiyan Wang, Xingqiang Lai, Zhengwei Zou, Jiaqi Sun, Qiong Ke, Minying Zheng, Xilin Lu, Zhong Pei, Huanxing Su, Andy Peng Xiang, Weiqiang Li, Xiaoli Yao
Charcot-Marie-Tooth disease type 1A (CMT1A), one of the most frequent inherited peripheral neuropathies, is associated with PMP22 gene duplication. Previous studies of CMT1A mainly relied on rodent models, and it is not yet clear how PMP22 overexpression leads to the phenotype in patients. Here, we generated the human induced pluripotent stem cell (hiPSC) lines from two CMT1A patients as an in vitro cell model. We found that, unlike the normal control cells, CMT1A hiPSCs rarely generated Schwann cells through neural crest stem cells (NCSCs)...
December 15, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29246495/elevated-peripheral-myelin-protein-22-reduced-mitotic-potential-and-proteasome-impairment-in-dermal-fibroblasts-from-charcot-marie-tooth-disease-type-1a-patients
#14
Sooyeon Lee, Hannah Bazick, Vinita Chittoor-Vinod, Mohammed Omar Al Salihi, Guangbin Xia, Lucia Notterpek
A common form of hereditary autosomal dominant demyelinating neuropathy known as Charcot-Marie-Tooth disease type 1A (CMT1A) is linked with duplication of the peripheral myelin protein 22 (PMP22) gene. Although studies from animal models have led to better understanding of the pathobiology of these neuropathies, there continues to be a gap in the translation of findings from rodents to humans. As PMP22 was originally identified in fibroblasts as growth arrest specific gene 3 (gas3) and is expressed broadly in the body, it was tested whether skin cells from neuropathic patients would display the cellular pathology observed in Schwann cells from rodent models...
December 12, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29246265/improvement-of-neuropathy-symptoms-with-treatment-of-obstructive-sleep-apnea-in-a-patient-with-charcot-marie-tooth-disease
#15
Pinar Polat, Huong Pham, Jun Li, Kanika Bagai
This is a case report describing a 53-year-old woman with Charcot-Marie-Tooth disease, obstructive sleep apnea, and a 6-year history of numbness in bilateral upper extremities, feet, and in the trunk that resolved with initiation of continuous positive airway pressure for her obstructive sleep apnea.
December 13, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/29245364/x-linked-charcot-marie-tooth-disease-with-gjb1-mutation-presenting-as-acute-disseminated-encephalomyelitis-like-illness-a-case-report
#16
Jin Kyu Kim, Seung-A Han, Sun Jun Kim
RATIONALE: Charcot-Marie-Tooth disease (CMT) is typically an autosomal dominant, inherited neuropathy, although there is a rare male X-linked CMT. Such patients show central nervous system (CNS) involvement in addition to peripheral neuropathy. Recently, we encountered a patient who presented with acute disseminated encephalomyelitis (ADEM)-like symptoms, but was later diagnosed as having X-linked CMT (CMTX) due to a mutation. PATIENT CONCERNS: A previously healthy 11-year-old boy was admitted for a sudden transient weakness of his left side extremities...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29243538/antineoplastic-agents-exacerbating-charcot-marie-tooth-disease-red-flags-to-avoid-permanent-disability
#17
M J Ibañez-Juliá, G Berzero, G Reyes-Botero, T Maisonobe, T Lenglet, M Slim, S Louis, A Balaguer, M Sanson, E Le Guern, P Latour, D Ricard, T Stojkovic, D Psimaras
BACKGROUND: Charcot Marie Tooth (CMT) disease is the most common form of hereditary neuropathy. Due to the high prevalence of mild and undiagnosed forms, patients with CMT disease may be exposed to severe neurotoxicity following the administration of neurotoxic chemotherapies. The aim of this report is to alert oncologists to the potential to precipitate severe irreversible peripheral neuropathies when administering neurotoxic compounds to undiagnosed CMT patients. MATERIAL AND METHODS: A retrospective research in the OncoNeuroTox database was performed (2010-2016), searching for patients with the diagnosis of chemotherapy-induced peripheral neuropathy (CIPN) and CMT disease...
December 15, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/29240741/a-retrospective-audit-of-the-characteristics-and-treatment-outcomes-in-patients-with-diabetes-related-charcot-neuropathic-osteoarthropathy
#18
Joanne Dixon, Joshua Coulter, Michele Garrett, Rick Cutfield
AIMS: To review the characteristics, management and outcomes one year after diagnosis in patients with diabetes related charcot neuropathic osteoarthropathy (CN) treated at the Diabetes Podiatry service, Waitemata District Health Board (WDHB) between 2000-2014. METHODS: Patients with diabetes and recorded diagnosis of CN were identified from the podiatry service records. Clinical details were retrospectively obtained from WDHB databases and patient medical records...
December 15, 2017: New Zealand Medical Journal
https://www.readbyqxmd.com/read/29236290/an-eight-generation-family-with-cmtx-confirmation-of-the-pathogenicity-of-a-3-untranslated-region-mutation-in-gjb1-and-its-clinical-features
#19
Dong-Hui Chen, Maxwell Ma, Mena Scavina, Elizabeth Blue, John Wolff, Prasanthi Karna, Michael O Dorschner, Wendy H Raskind, Thomas D Bird
INTRODUCTION: Mutations in gap junction protein beta 1 (GJB1) on the X chromosome represent one of the most common causes of hereditary neuropathy. We assessed manifestations associated with a rare 3' untranslated region mutation (UTR) of GJB1 in a large family with X-linked Charcot-Marie-Tooth (CMTX). METHODS: Clinical, electrophysiological, and molecular genetic analyses of an eight-generation family with CMTX. RESULTS: There we 22 affected males and 19 symptomatic females, including an 83-year old woman followed for 40 years...
December 13, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29235198/substrate-interaction-defects-in-histidyl-trna-synthetase-linked-to-dominant-axonal-peripheral-neuropathy
#20
Jamie A Abbott, Rebecca Meyer-Schuman, Vincenzo Lupo, Shawna Feely, Inès Mademan, Stephanie N Oprescu, Laurie B Griffin, M Antonia Alberti, Carlos Casasnovas, Sharon Aharoni, Lina Basel-Vanagaite, Stephan Züchner, Peter De Jonghe, Jonathan Baets, Michael E Shy, Carmen Espinós, Borries Demeler, Anthony Antonellis, Christopher Francklyn
Histidyl-tRNA synthetase (HARS) ligates histidine to cognate tRNA molecules, which is required for protein translation. Mutations in HARS cause the dominant axonal peripheral neuropathy Charcot Marie-Tooth disease type 2W (CMT2W); however, the precise molecular mechanism remains undefined. Here, we investigated three HARS missense mutations associated with CMT2W (p.Tyr330Cys, p.Ser356Asn, and p.Val155Gly). The three mutations localize to the HARS catalytic domain and failed to complement deletion of the yeast ortholog (HTS1)...
December 12, 2017: Human Mutation
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