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https://www.readbyqxmd.com/read/29353045/functionally-compromised-synovium-derived-mesenchymal-stem-cells-in-charcot-neuroarthropathy
#1
Reed Mitchell, Jeremy Molligan, Sydney Rooney, Young Cho, Lew Schon, Zijun Zhang
Charcot neuroarthropathy (CNA) often presents as a diabetic foot complication. The role of synovial mesenchymal stem cells (syn-MSCs) in the pathogenesis of CNA is unclear. Synovial samples were collected, for isolation of syn-MSCs, from diabetic patients with CNA (n=7) and non-diabetic patients with intra-articular fracture or normal joints (non-CNA; n=7) during foot surgery. The syn-MSCs in the CNA and non-CNA groups were characterized comparatively. The average number of colonies formed in the CNA group was 6±3...
January 15, 2018: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/29351582/sco2-mutations-cause-early-onset-axonal-charcot-marie-tooth-disease-associated-with-cellular-copper-deficiency
#2
Adriana P Rebelo, Dimah Saade, Claudia P Pereira, Amjad Farooq, Tyler C Huff, Lisa Abreu, Carlos T Moraes, Diana Mnatsakanova, Kathy Mathews, Hua Yang, Eric A Schon, Stephan Zuchner, Michael E Shy
Recessive mutations in the mitochondrial copper-binding protein SCO2, cytochrome c oxidase (COX) assembly protein, have been reported in several cases with fatal infantile cardioencephalomyopathy with COX deficiency. Significantly expanding the known phenotypic spectrum, we identified compound heterozygous variants in SCO2 in two unrelated patients with axonal polyneuropathy, also known as Charcot-Marie-Tooth disease type 4. Different from previously described cases, our patients developed predominantly motor neuropathy, they survived infancy, and they have not yet developed the cardiomyopathy that causes death in early infancy in reported patients...
January 16, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29350067/soluble-neuregulin1-is-strongly-up-regulated-in-the-rat-model-of-charcot-marie-tooth-1a-disease
#3
Benedetta Elena Fornasari, Giulia Ronchi, Davide Pascal, Davide Visigalli, Giovanna Capodivento, Lucilla Nobbio, Isabelle Perroteau, Angelo Schenone, Stefano Geuna, Giovanna Gambarotta
Neuregulin1 (NRG1) is a growth factor playing a pivotal role in peripheral nerve development through the activation of the transmembrane co-receptors ErbB2-ErbB3. Soluble NRG1 isoforms, mainly secreted by Schwann cells, are strongly and transiently up-regulated after acute peripheral nerve injury, thus suggesting that they play a crucial role also in the response to nerve damage. Here we show that in the rat experimental model of the peripheral demyelinating neuropathy Charcot-Marie-Tooth 1A (CMT1A) the expression of the different NRG1 isoforms (soluble, type α and β, type a and b) is strongly up-regulated, as well as the expression of NRG1 co-receptors ErbB2-ErbB3, thus showing that CMT1A nerves have a gene expression pattern highly reminiscent of injured nerves...
January 1, 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29342275/hot-spot-kif5a-mutations-cause-familial-als
#4
David Brenner, Rüstem Yilmaz, Kathrin Müller, Torsten Grehl, Susanne Petri, Thomas Meyer, Julian Grosskreutz, Patrick Weydt, Wolfgang Ruf, Christoph Neuwirth, Markus Weber, Susana Pinto, Kristl G Claeys, Berthold Schrank, Berit Jordan, Antje Knehr, Kornelia Günther, Annemarie Hübers, Daniel Zeller, Christian Kubisch, Sibylle Jablonka, Michael Sendtner, Thomas Klopstock, Mamede de Carvalho, Anne Sperfeld, Guntram Borck, Alexander E Volk, Johannes Dorst, Joachim Weis, Markus Otto, Joachim Schuster, Kelly Del Tredici, Heiko Braak, Karin M Danzer, Axel Freischmidt, Thomas Meitinger, Tim M Strom, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together with the observation that many of the disease genes associated with amyotrophic lateral sclerosis disrupt cytoskeletal function and intracellular transport, led us to hypothesize that mutations in KIF5A are also a cause of amyotrophic lateral sclerosis...
January 12, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29341362/a-novel-mutation-of-lrsam1-in-a-chinese-family-with-charcot-marie-tooth-disease
#5
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
#6
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/29336362/screening-for-sh3tc2-pmp2-and-bscl2-variants-in-a-cohort-of-chinese-patients-with-charcot-marie-tooth
#7
Xin Zhao, Ming-Ming Jiang, Yi-Zhou Yan, Lei Liu, Yong-Zhi Xie, Xiao-Bo Li, Zheng-Mao Hu, Xiao-Hong Zi, Kun Xia, Bei-Sha Tang, Ru-Xu Zhang
BACKGROUND: SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in Chinese CMT patients. Therefore, this study aims to detect SH3TC2, PMP2, and BSCL2 pathogenic variants in a cohort of 315 unrelated Chinese CMT families. METHODS: A total of 315 probands from 315 unrelated Chinese CMT families were recruited from the Department of Neurology of Third Xiangya Hospital and Xiangya Hospital...
January 20, 2018: Chinese Medical Journal
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
#8
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
#9
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/29321516/clinical-and-mutational-spectrum-of-japanese-patients-with-recessive-variants-in-sh3tc2
#10
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
#11
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
#12
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
#13
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
#14
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/29310882/high-incidence-of-recurrent-ulceration-and-major-amputations-associated-with-charcot-foot
#15
Fredrik A Nilsen, Marius Molund, Kjetil H Hvaal
Few studies have evaluated the long-term clinical outcomes of Charcot foot. The present study evaluated the long-term effects of Charcot foot in a population treated with early weightbearing in a removable Charcot restraint orthotic walker. A retrospective study of 62 consecutive patients (74 feet) treated for Charcot foot from January 2003 to March 2014 was conducted. Of the 74 affected feet, 48 (64.9%) had developed an ulcer. The total amputation rate was 25.7% (19 feet), and 11 feet (14.9%) underwent major amputations...
January 5, 2018: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29306600/a-missense-mutation-in-dync1h1-gene-causing-spinal-muscular-atrophy-lower-extremity-dominant
#16
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
#17
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
#18
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
#19
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
#20
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
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