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CMT1A

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https://www.readbyqxmd.com/read/29321234/plasma-neurofilament-light-chain-concentration-in-the-inherited-peripheral-neuropathies
#1
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
#2
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/29276154/modeling-the-pathogenesis-of-charcot-marie-tooth-disease-type-1a-using-patient-specific-ipscs
#3
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
#4
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/29202483/pmp22-antisense-oligonucleotides-reverse-charcot-marie-tooth-disease-type-1a-features-in-rodent-models
#5
Hien Tran Zhao, Sagar Damle, Karli Ikeda-Lee, Steven Kuntz, Jian Li, Apoorva Mohan, Aneeza Kim, Gene Hung, Mark A Scheideler, Steven S Scherer, John Svaren, Eric E Swayze, Holly B Kordasiewicz
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of peripheral myelin protein 22 (PMP22) and is the most common hereditary peripheral neuropathy. CMT1A is characterized by demyelination and axonal loss, which underlie slowed motor nerve conduction velocity (MNCV) and reduced compound muscle action potentials (CMAP) in patients. There is currently no known treatment for this disease. Here, we show that antisense oligonucleotides (ASOs) effectively suppress PMP22 mRNA in affected nerves in 2 murine CMT1A models...
December 4, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29199996/antisense-oligonucleotides-offer-hope-to-patients-with-charcot-marie-tooth-disease-type-1a
#6
Michael E Shy
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common heritable peripheral neuropathy and results from a duplication on chromosome 17 that results in an extra copy and increased dosage of peripheral myelin protein 22 (PMP22). Zhao et al., in this issue of the JCI, successfully utilized antisense oligonucleotides (ASOs) to reduce PMP22 and ameliorated neuropathy in both mouse and rat models of CMT1A. These data confirm that strategies to reduce PMP22 have potential as effective therapeutic approaches for CMT1A and lay the groundwork for clinical trials in humans afflicted with this chronic, debilitating neurodegenerative disease...
December 4, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29168276/established-and-novel-measures-of-upper-limb-impairment-in-children-with-charcot-marie-tooth-disease-type-1a-and-riboflavin-transporter-deficiency-type-2
#7
Kayla Cornett, Manoj P Menezes, Paula Bray, Mark Halaki, Joshua Burns
BACKGROUND: Hand function is a problem in patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and Riboflavin Transporter Deficiency type 2 (RTD2). However, a detailed understanding of upper limb involvement in these conditions is lacking. The aim of this pilot study was to compare hand and upper limb function between children with CMT1A, RTD2 and healthy controls using established and novel outcome measures. METHODS: Three age-and sex-matched groups of four children (5-15 years, 1 male/group) with CMT1A, RTD2, and healthy controls were assessed for function, strength, and sensation...
November 23, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29063243/characterization-of-charcot-marie-tooth-optic-neuropathy
#8
Benjamin Botsford, Laurel N Vuong, Thomas R Hedges Iii, Carlos E Mendoza-Santiesteban
Varying degrees of optic neuropathy can be seen in patients with Charcot-Marie-Tooth (CMT) disease. To define and characterize the extent of optic neuropathy in patients with CMT2A and CMT1A, two patients from both sub-classifications were evaluated. All patients underwent complete neuro-ophthalmic examinations, and optical coherence (OCT) measurements of the retinal nerve fiber layer (RNFL) and ganglion cell layer complex (GCC) were obtained, along with pattern visual evoked potential (VEP) and pattern electroretinogram (ERG) recordings...
December 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29053907/motor-performance-deterioration-accelerates-after-50-years-of-age-in-charcot-marie-tooth-type-1a-patients
#9
Stefano Tozza, Dario Bruzzese, Chiara Pisciotta, Rosa Iodice, Marcello Esposito, Raffaele Dubbioso, Lucia Ruggiero, Antonietta Topa, Emanuele Spina, Lucio Santoro, Fiore Manganelli
OBJECTIVE: The aim of our study was to describe, by a case-control and cross-sectional design, the correlation between clinical impairment and age in CMT1A patients. METHODS: We enrolled seventy CMT1A patients and seventy sex- and age-matched healthy controls. Motor performance was assessed through 10-Meter Walk Test, 6-Minute Walk Test and 9-Hole Peg Test (9HPT) of dominant and non-dominant side, and muscle strength was measured by using the Medical Research Council Score...
October 20, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29036910/melatonin-treatment-reduces-oxidative-damage-and-normalizes-plasma-pro-inflammatory-cytokines-in-patients-suffering-from-charcot-marie-tooth-neuropathy-a-pilot-study-in-three-children
#10
Mariam Chahbouni, María Del Señor López, Antonio Molina-Carballo, Tomás de Haro, Antonio Muñoz-Hoyos, Marisol Fernández-Ortiz, Ana Guerra-Librero, Darío Acuña-Castroviejo
Charcot-Marie-Tooth neuropathy (CMT) is a motor and sensory neuropathy comprising a heterogeneous group of inherited diseases. The CMT1A phenotype is predominant in the 70% of CMT patients, with nerve conduction velocity reduction and hypertrophic demyelination. These patients have elevated oxidative stress and chronic inflammation. Currently, there is no effective cure for CMT; herein, we investigated whether melatonin treatment may reduce the inflammatory and oxidative damage in CMT1A patients. Three patients, aged 8-10 years, were treated with melatonin (60 mg at 21:00 h plus 10 mg at 09:00 h), and plasma levels of lipid peroxidation (LPO), nitrites (NOx), IL-1β, IL-2, IL-6, TNF-α, INF-γ, oxidized to reduced glutathione (GSSG/GSH) ratio, and the activities of superoxide dismutase (SOD), glutathione-S transferase (GST), glutathione peroxidase (GPx), and reductase (GRd), were determined in erythrocytes at 3 and 6 months of treatment...
October 14, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28958781/a-look-inside-the-nerve-morphology-of-nerve-fascicles-in-healthy-controls-and-patients-with-polyneuropathy
#11
Alexander Grimm, Natalie Winter, Tim W Rattay, Florian Härtig, Nele M Dammeier, Eva Auffenberg, Marilin Koch, Hubertus Axer
OBJECTIVE: Polyneuropathies are increasingly analyzed by ultrasound. Summarizing, diffuse enlargement is typical in Charcot-Marie Tooth type 1 (CMT1a), regional enlargement occurs in inflammatory neuropathies. However, a distinction of subtypes is still challenging. Therefore, this study focused on fascicle size and pattern in controls and distinct neuropathies. METHODS: Cross-sectional area (CSA) of the median, ulnar and peroneal nerve (MN, UN, PN) was measured at predefined landmarks in 50 healthy controls, 15 CMT1a and 13 MMN patients...
September 19, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28914656/charcot-marie-tooth-disease-type-1a-influence-of-body-mass-index-on-nerve-conduction-studies-and-on-the-charcot-marie-tooth-examination-score
#12
Nivedita U Jerath, Michael E Shy
PURPOSE: Charcot-Marie-Tooth Disease type 1A (CMT1A) is caused by a duplication of the peripheral myelin protein gene 22 at chromosome 17p11.2-12. There is limited data regarding whether body mass index (BMI) affects electrophysiological or clinical data in those with CMT1A. METHODS: Electrophysiological data, the Charcot-Marie-Tooth examination score (CMTES) and BMI from 101 patients with known CMT1A were obtained and analyzed. RESULTS: When controlling for age, a higher BMI does not affect ulnar motor nerve conduction studies in those with CMT1A, but rather components of the CMTES (loss of pinprick and motor strength in the lower extremities)...
November 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28860329/biomarkers-predict-outcome-in-charcot-marie-tooth-disease-1a
#13
Robert Fledrich, Manoj Mannil, Andreas Leha, Caroline Ehbrecht, Alessandra Solari, Ana L Pelayo-Negro, José Berciano, Beate Schlotter-Weigel, Tuuli J Schnizer, Thomas Prukop, Natalia Garcia-Angarita, Dirk Czesnik, Jana Haberlová, Radim Mazanec, Walter Paulus, Tim Beissbarth, Maggie C Walter, Cmt- Triaal, Jean-Yves Hogrel, Odile Dubourg, Angelo Schenone, Jonathan Baets, Peter De Jonghe, Michael E Shy, Rita Horvath, Davide Pareyson, Pavel Seeman, Peter Young, Michael W Sereda
BACKGROUND: Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited neuropathy, a debilitating disease without known cure. Among patients with CMT1A, disease manifestation, progression and severity are strikingly variable, which poses major challenges for the development of new therapies. Hence, there is a strong need for sensitive outcome measures such as disease and progression biomarkers, which would add powerful tools to monitor therapeutic effects in CMT1A. METHODS: We established a pan-European and American consortium comprising nine clinical centres including 311 patients with CMT1A in total...
November 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28835897/clinical-and-pathological-variation-of-charcot-marie-tooth-1a-in-a-large-chinese-cohort
#14
Rui Wu, He Lv, Wei Zhang, Zhaoxia Wang, Yuehuan Zuo, Jing Liu, Yun Yuan
Charcot-Marie-Tooth 1A (CMT1A) caused by peripheral myelin protein 22 (PMP22) gene duplication is the most common form of hereditary polyneuropathy. Twenty-four genetically confirmed CMT1A patients with sural nerve biopsies were enrolled in this study. The clinical picture included a great variability of phenotype with mean onset age of 22.2 ± 14.5 years (1-55 years). Pathologically, we observed a severe reduction in myelinated fiber density showing three types of changes: pure onion bulb formation in 3 cases (12...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28812050/caveats-in-the-established-understanding-of-cmt1a
#15
Jun Li
Charcot-Marie-Tooth disease type-1A (CMT1A) is one of the most common types of inherited peripheral nerve diseases. It is caused by the trisomy of chromosome 17p12 (c17p12), a large DNA segment of 1.4 Mb containing PMP22 plus eight other genes. The size of c17p12 is formidable for any cloning technique to manipulate, and thus precludes production of models in vitro and in vivo that can precisely recapitulate the genetic alterations in humans with CMT1A. This limitation and other factors have led to several assumptions, which have yet been carefully scrutinized, serving as key principles in our understanding of the disease...
August 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28796392/natural-history-of-charcot-marie-tooth-disease-during-childhood
#16
Kayla M D Cornett, Manoj P Menezes, Rosemary R Shy, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Timothy Estilow, Sabrina W Yum, Trupti Bhandari, Francesco Muntoni, Matilde Laura, Mary M Reilly, Richard S Finkel, Kate J Eichinger, David N Herrmann, Paula Bray, Mark Halaki, Michael E Shy, Joshua Burns
OBJECTIVE: To determine the rate of disease progression in a longitudinal natural history study of children with Charcot-Marie-Tooth (CMT) disease. METHODS: Two hundred six (103 female) participants aged 3 to 20 years enrolled in the Inherited Neuropathies Consortium were assessed at baseline and 2 years. Demographic, anthropometric, and diagnostic information were collected. Disease progression was assessed with the CMT Pediatric Scale (CMTPedS), a reliable Rasch-built linearly weighted disability scale evaluating fine and gross motor function, strength, sensation, and balance...
September 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28796340/application-of-differentiated-human-tonsil-derived-stem-cells-to-trembler-j-mice
#17
Saeyoung Park, Yoonyoung Choi, Geon Kwak, Young Bin Hong, Namhee Jung, Jieun Kim, Byung-Ok Choi, Sung-Chul Jung
INTRODUCTION: Mesenchymal stem cells (MSCs) can differentiate into various cell types. METHODS: In this study we investigated the potential of human tonsil-derived MSCs (T-MSCs) for neuromuscular regeneration in trembler-J (Tr-J) mice, a model for Charcot-Marie-Tooth disease type 1A (CMT1A). RESULTS: T-MSCs differentiated toward skeletal myocytes with increased expression of skeletal muscle-related markers (including troponin I type 1, and myogenin), and the formation of myotubes in vitro...
August 10, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28762860/intensive-strength-and-balance-training-with-the-kinect-console-xbox-360-in-a-patient-with-cmt1a
#18
Emanuela Pagliano, Maria Foscan, Alessia Marchi, Alice Corlatti, Giorgia Aprile, Daria Riva
BACKGROUND: Effective drugs for type 1A Charcot-Marie-Tooth (CMT1A) disease are not available. Various forms of moderate exercise are beneficial, but few data are available on the effectiveness of exercise in CMT1A children. AIM: To investigate the feasibility and effectiveness of exercises to improve ankle strength and limb function in a child with CMT1A. SETTING: Outpatient clinic. POPULATION: Nine-year-old boy with CMT1A...
August 1, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/28575008/plasma-metabolome-and-skin-proteins-in-charcot-marie-tooth-1a-patients
#19
Beatriz Soldevilla, Carmen Cuevas-Martín, Clara Ibáñez, Fulvio Santacatterina, María A Alberti, Carolina Simó, Carlos Casasnovas, Celedonio Márquez-Infante, Teresa Sevilla, Samuel I Pascual, María Sánchez-Aragó, Carmen Espinos, Francesc Palau, José M Cuezva
OBJECTIVE: Charcot-Marie-Tooth 1A (CMT1A) disease is the most common inherited neuropathy that lacks of therapy and of molecular markers to assess disease severity. Herein, we have pursued the identification of potential biomarkers in plasma samples and skin biopsies that could define the phenotype of CMT1A patients at mild (Mi), moderate (Mo) and severe (Se) stages of disease as assessed by the CMT neuropathy score to contribute to the understanding of CMT pathophysiology and eventually inform of the severity of the disease...
2017: PloS One
https://www.readbyqxmd.com/read/28522988/multiple-sites-ultrasonography-of-peripheral-nerves-in-differentiating-charcot-marie-tooth-type-1a-from-chronic-inflammatory-demyelinating-polyradiculoneuropathy
#20
Jingwen Niu, Liying Cui, Mingsheng Liu
INTRODUCTION: Multiple sites measurement of cross-sectional areas (CSA) by ultrasound was performed to differentiate Charcot-Marie-Tooth type 1A (CMT1A) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). METHODS: Nine patients with CMT1A, 28 patients with CIDP, and 14 healthy controls (HC) were recruited prospectively. Consecutive ultrasonography scanning was performed from wrist to axilla on median and ulnar nerves. CSAs were measured at 10 predetermined sites of each nerve...
2017: Frontiers in Neurology
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