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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
#1
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/29321516/clinical-and-mutational-spectrum-of-japanese-patients-with-recessive-variants-in-sh3tc2
#2
Jun-Hui Yuan, Akihiro Hashiguchi, Yuji Okamoto, Akiko Yoshimura, Masahiro Ando, Kazutaka Shiomi, Kayoko Saito, Makoto Takahashi, Keiko Ichinose, Takuma Ohmichi, Kazushi Ichikawa, Adachi Tadashi, Hiroshi Takigawa, Hidehiro Shibayama, Hiroshi Takashima
SH3TC2, known as the causative gene of autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C), was also found linked to a mild mononeuropathy of the median nerve with an autosomal dominant inheritance pattern. Using DNA microarray, Illumina MiSeq, and Ion proton, we carried out gene panel sequencing among 1483 Japanese CMT patients, containing 397 patients with demyelinating CMT. From seven patients with demyelinating CMT, we identified eight recessive variants in the SH3TC2 gene, consisting of five novel (pathogenic/likely pathogenic) and three reported variants...
January 10, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29321234/plasma-neurofilament-light-chain-concentration-in-the-inherited-peripheral-neuropathies
#3
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/29321227/neurofilament-light-biomarkers-and-charcot-marie-tooth-disease
#4
EDITORIAL
Davide Pareyson, Michael E Shy
No abstract text is available yet for this article.
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
#5
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
#6
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/29306600/a-missense-mutation-in-dync1h1-gene-causing-spinal-muscular-atrophy-lower-extremity-dominant
#7
Joyutpal Das, James B Lilleker, Kavaldeep Jabbal, John Ealing
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder, which causes progressive muscle weakness and in severe cases respiratory failure and death. Although the majority of the SMA cases are autosomal recessive, there is an autosomal dominant variant of SMA that primarily affects the lower extremities, known as 'spinal muscular atrophy - lower extremity, dominant' (SMALED). Mutations in the Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) gene were the first to be associated with SMALED. Here we report a family with SMALED caused by a pathogenic heterozygous missense c...
December 14, 2017: Neurologia i Neurochirurgia Polska
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/29289585/six-months-of-strength-training-reduces-progression-of-dorsiflexor-muscle-weakness-in-children-with-charcot-marie-tooth-disease-commentary
#10
Gita Ramdharry
No abstract text is available yet for this article.
December 27, 2017: Journal of Physiotherapy
https://www.readbyqxmd.com/read/29288497/the-role-of-trna-synthetases-in-neurological-and-neuromuscular-disorders
#11
REVIEW
Veronika Boczonadi, Matthew J Jennings, Rita Horvath
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes responsible for charging tRNAs with their cognate amino acids, therefore essential for the first step in protein synthesis. Although the majority of protein synthesis happens in the cytosol, an additional translation apparatus is required to translate the 13 mitochondrial DNA-encoded proteins important in oxidative phosphorylation. Most ARS genes in these cellular compartments are distinct, but two genes are common, encoding aminoacyl-tRNA synthetases of glycine (GARS) and lysine (KARS) in both mitochondria and the cytosol...
December 30, 2017: FEBS Letters
https://www.readbyqxmd.com/read/29282812/frequency-and-circumstances-of-falls-for-people-with-charcot-marie-tooth-disease-a-cross-sectional-survey
#12
Gita M Ramdharry, Louise Reilly-O'Donnell, Robert Grant, Mary M Reilly
OBJECTIVE: People with Charcot-Marie-Tooth (CMT) disease may be at risk of falls due to distal muscle weakness and sensory impairment. We aimed to understand the frequency of falls in a cohort, where they occurred, injury and to what people attributed the possible cause. DESIGN: A cross-sectional survey design was used. It was sent by post to ascertain the frequency of falls and near falls, plus the circumstances of the last three falls events they could recall...
December 28, 2017: Physiotherapy Research International: the Journal for Researchers and Clinicians in Physical Therapy
https://www.readbyqxmd.com/read/29277257/early-onset-axonal-charcot-marie-tooth-disease-due-to-sacs-mutation
#13
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
#14
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/29276065/six-months-of-strength-training-reduces-progression-of-dorsiflexor-muscle-weakness-in-children-with-charcot-marie-tooth-disease-synopsis
#15
Nora Shields
No abstract text is available yet for this article.
December 21, 2017: Journal of Physiotherapy
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
#16
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
#17
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
#18
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
#19
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/29236290/an-eight-generation-family-with-cmtx-confirmation-of-the-pathogenicity-of-a-3-untranslated-region-mutation-in-gjb1-and-its-clinical-features
#20
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
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