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Axonal neuropathy

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https://www.readbyqxmd.com/read/28802056/different-nerve-ultrasound-patterns-in-charcot-marie-tooth-types-and-hnpp
#1
Luca Padua, Daniele Coraci, Marta Lucchetta, Ilaria Paolasso, Costanza Pazzaglia, Giuseppe Granata, Mario Cacciavillani, Marco Luigetti, Fiore Manganelli, Chiara Pisciotta, Giuseppe Piscosquito, Davide Pareyson, Chiara Briani
INTRODUCTION: Nerve ultrasound in Charcot-Marie-Tooth disease (CMT) has mostly focused on upper limbs. We performed an evaluation of a large cohort of CMT patients in which we sonographically characterized nerve abnormalities in different disease types, ages and nerves. METHODS: Seventy patients affected by different CMT types and hereditary neuropathy with liability to pressure palsies (HNPP) were evaluated, assessing median, ulnar, fibular, tibial and sural nerves bilaterally...
August 12, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28798317/sphingomyelin-as-a-myelin-biomarker-in-csf-of-acquired-demyelinating-neuropathies
#2
Giovanna Capodivento, Davide Visigalli, Martina Garnero, Roberto Fancellu, Michela Demetra Ferrara, Abdul Basit, Zeeshan Hamid, Vito Paolo Pastore, Silvano Garibaldi, Andrea Armirotti, Gianluigi Mancardi, Carlo Serrati, Elisabetta Capello, Angelo Schenone, Lucilla Nobbio
Fast, accurate and reliable methods to quantify the amount of myelin still lack, both in humans and experimental models. The overall objective of the present study was to demonstrate that sphingomyelin (SM) in the cerebrospinal fluid (CSF) of patients affected by demyelinating neuropathies is a myelin biomarker. We found that SM levels mirror both peripheral myelination during development and small myelin rearrangements in experimental models. As in acquired demyelinating peripheral neuropathies myelin breakdown occurs, SM amount in the CSF of these patients might detect the myelin loss...
August 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28797631/hspb1-mutations-causing-hereditary-neuropathy-in-humans-disrupt-non-cell-autonomous-protection-of-motor-neurons
#3
Patrick L Heilman, SungWon Song, Carlos J Miranda, Kathrin Meyer, Amit K Srivastava, Amy Knapp, Christopher G Wier, Brian K Kaspar, Stephen J Kolb
Heat shock protein beta-1 (HSPB1), is a ubiquitously expressed, multifunctional protein chaperone. Mutations in HSPB1 result in the development of a late-onset, distal hereditary motor neuropathy type II (dHMN) and axonal Charcot-Marie Tooth disease with sensory involvement (CMT2F). The functional consequences of HSPB1 mutations associated with hereditary neuropathy are unknown. HSPB1 also displays neuroprotective properties in many neuronal disease models, including the motor neuron disease amyotrophic lateral sclerosis (ALS)...
August 7, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28795960/advances-in-experimental-optic-nerve-regeneration
#4
Bo Young Chun, Dean M Cestari
PURPOSE OF REVIEW: Recent advances in experimental studies of optic nerve regeneration to better understand the pathophysiology of axon regrowth and provide insights into the future treatment of numerous optic neuropathies. RECENT FINDINGS: The optic nerve is part of the central nervous system and cannot regenerate if injured. There are several steps that regenerating axons of retinal ganglion cells (RGCs) must take following optic nerve injury that include: maximizing the intrinsic growth capacity of RGCs, overcoming the extrinsic growth-inhibitory environment of the optic nerve, and optimizing the reinnervation of regenerated axons to their targets in the brain...
August 8, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28795433/schwann-cell-dedifferentiation-associated-demyelination-leads-to-exocytotic-myelin-clearance-in-inflammatory-segmental-demyelination
#5
So Young Jang, Byeol-A Yoon, Yoon Kyung Shin, Seoug Hoon Yun, Young Rae Jo, Yun Young Choi, Meejung Ahn, Taekyun Shin, Joo In Park, Jong Kuk Kim, Hwan Tae Park
Schwann cells (SCs), which form the peripheral myelin sheath, have the unique ability to dedifferentiate and to destroy the myelin sheath under various demyelination conditions. During SC dedifferentiation-associated demyelination (SAD) in Wallerian degeneration (WD) after axonal injury, SCs exhibit myelin and junctional instability, down-regulation of myelin gene expression and autophagic myelin breakdown. However, in inflammatory demyelinating neuropathy (IDN), it is still unclear how SCs react and contribute to segmental demyelination before myelin scavengers, macrophages, are activated for phagocytotic myelin digestion...
August 10, 2017: Glia
https://www.readbyqxmd.com/read/28780535/clinical-physiological-and-pathological-characterisation-of-the-sensory-predominant-peripheral-neuropathy-in-copper-deficiency
#6
Sean W Taylor, Ruple S Laughlin, Neeraj Kumar, Brent Goodman, Christopher J Klein, Peter J Dyck, P James B Dyck
INTRODUCTION: Myelopathy is considered the most common neurological complication of copper deficiency. Concurrent peripheral neuropathy has been recognised in association with copper deficiency but has not been well characterised. OBJECTIVES: To characterise the clinical, physiological and pathological features of copper-deficient peripheral neuropathy. METHODS: Patients with simultaneous copper deficiency (<0.78 μg/mL) and peripheral neuropathy seen at the Mayo Clinic from 1985 to 2005 were identified...
August 5, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28771897/clinical-and-mutational-spectrum-of-charcot-marie-tooth-disease-type-2z-caused-by-morc2-variants-in-japan
#7
M Ando, Y Okamoto, A Yoshimura, J-H Yuan, Y Hiramatsu, Y Higuchi, A Hashiguchi, J Mitsui, H Ishiura, S Fukumura, M Matsushima, N Ochi, J Tsugawa, S Morishita, S Tsuji, H Takashima
BACKGROUND AND PURPOSE: The microrchidia family CW-type zinc finger 2 gene (MORC2) was newly identified as a causative gene of Charcot-Marie-Tooth disease (CMT) type 2Z in 2016. We aimed to describe the clinical and mutational spectrum of patients with CMT harboring MORC2 mutations in Japan. METHODS: We analyzed samples from 781 unrelated patients clinically diagnosed with CMT using deoxyribonucleic acid microarray or targeted resequencing by next-generation sequencing, and samples from 434 mutation-negative patients were subjected to whole-exome sequencing...
August 3, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28771761/metformin-protects-against-experimental-acrylamide-neuropathy-in-rats
#8
Samah S Oda
Preclinical Research To investigate the potential neuroprotective effects of metformin against experimental acrylamide neuropathy in rats, 24 rats were distributed into four equal groups (6 each). Group 1 was kept as a control. Group 2 (MET) was orally given metformin (200 mg/kg BW/day). Group 3 (ACR) was injected IP with acrylamide (50 mg/kg BW/day). Animals in group 4 (ACR + MET) were administered both MET and ACR at the same dose and route used in groups 2 and 3. Treatments were administered three times a week for three weeks...
August 3, 2017: Drug Development Research
https://www.readbyqxmd.com/read/28768837/vitamin-d-in-the-spectrum-of-prediabetes-and-cardiovascular-autonomic-dysfunction
#9
REVIEW
Rumyana Dimova, Tsvetalina Tankova, Nevena Chakarova
Vitamin D is a fat-soluble secosteroid hormone with pleiotropic effects. 1,25-Dihydroxyvitamin D coordinates the biosynthesis of neurotransmitters in the central nervous system, which regulate cardiovascular autonomic function and may explain its putative role in the development of cardiovascular autonomic neuropathy (CAN). CAN is an independent risk factor for mortality in patients with diabetes and prediabetes and is associated with an increased risk of developing type 2 diabetes and cardiovascular disease...
August 2, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28765062/immune-mediated-neuropathy-following-checkpoint-immunotherapy
#10
REVIEW
Yufan Gu, Alexander M Menzies, Georgina V Long, S L Fernando, G Herkes
Checkpoint immunotherapy has revolutionised cancer therapy and is now standard treatment for many malignancies including metastatic melanoma. Acute inflammatory neuropathies, often labelled as Guillain-Barre syndrome, are an uncommon but potentially severe complication of checkpoint immunotherapy with individual cases described but never characterised as a group. We describe a case of acute sensorimotor and autonomic neuropathy following a single dose of combination ipilimumab and nivolumab for metastatic melanoma...
July 29, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28764223/frequency-of-polyneuropathy-in-patients-on-long-term-peritoneal-dialysis-treatment
#11
Taner Basturk, Yener Koc, Aarzu Ozdemir Kayalar, Figen Yilmaz, Nuri Baris Hasbal, Tamer Sakaci, Elbis Ahbap, Abdulkadir Unsal
INTRODUCTION: Uremic polyneuropathy is very common among patients with Chronic Kidney Disease (CKD). The patients have electrophysiologic signs of impaired nerve function, although a lower percentage of patients are symptomatic. Electrophysiological parameters are quantitative indices of Polyneuropathy (PNP) severity. AIM: To assess the frequency of PNP in patients on long term Peritoneal Dialysis (PD) treatment. MATERIALS AND METHODS: Twenty three PD patients were analysed, who were receiving dialysis for at least five years and the study population divided into two groups according to duration of PD treatment...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28754297/acute-axonal-neuropathy-subtype-of-guillain-barr%C3%A3-syndrome-in-a-french-pediatric-series-adequate-follow-up-may-require-repetitive-electrophysiological-studies
#12
Judith Chareyre, Marie Hully, Hina Simonnet, Lucile Musset, Christine Barnerias, Manoelle Kossorotoff, Susana Quijano-Roy, Isabelle Desguerre, Cyril Gitiaux
Different subtypes of Guillain Barré Syndromes (GBSs) are defined by their electrophysiological characteristics, acute inflammatory demyelinating neuropathy (AIDP), and acute motor/motor-sensory axonal forms (AMAN/AMSAN) with either reversible nerve conduction failure (RCF) or axonal degeneration. Our aim was to describe initial clinical and electrophysiological characteristics of axonal forms of GBS in a pediatric population and their short- and long-term evolution. Electroneuromyogram (ENMG) results were collected at diagnosis and at two months of evolution and interpreted using the recently proposed pattern of RCF vs axonal degeneration...
July 17, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28748102/kamishoyosan-and-shakuyakukanzoto-promote-recovery-from-paclitaxel-induced-neurite-retraction-in-pc12-cells
#13
Ken Konaka, Kota Moriyama, Takumi Sakurada, Naoto Okada, Masaki Imanishi, Yoshito Zamami, Kazuyoshi Kawazoe, Shuji Fushitani, Keisuke Ishizawa
BACKGROUND: In chemotherapy, the full round of treatment must be completed as scheduled to achieve the strongest therapeutic effect. However, peripheral neuropathy, a severe side effect of the chemotherapeutic agent paclitaxel, can force the premature discontinuation of treatment. As some kampo practitioners have suggested that it may be possible to counteract such side effects, we analyzed the effects of Kamishoyosan, Shakuyakukanzoto, and Goshajinkigan in an in vitro model of paclitaxel-induced peripheral neuropathy...
2017: Journal of Pharmaceutical Health Care and Sciences
https://www.readbyqxmd.com/read/28731838/neuroprotection-in-glaucoma-animal-models-and-clinical-trials
#14
Mohammadali Almasieh, Leonard A Levin
Glaucoma is a progressive neurodegenerative disease that frequently results in irreversible blindness. Glaucoma causes death of retinal ganglion cells (RGCs) and their axons in the optic nerve, resulting in visual field deficits and eventual loss of visual acuity. Glaucoma is a complex optic neuropathy, and a successful strategy for its treatment requires not only better management of known risk factors such as elevated intraocular pressure and the development of improved tools for detecting RGC injury but also treatments that address this injury (i...
July 21, 2017: Annual Review of Vision Science
https://www.readbyqxmd.com/read/28729624/taxanes-and-platinum-derivatives-impair-schwann-cells-via-distinct-mechanisms
#15
Satoshi Imai, Madoka Koyanagi, Ziauddin Azimi, Yui Nakazato, Mayuna Matsumoto, Takashi Ogihara, Atsushi Yonezawa, Tomohiro Omura, Shunsaku Nakagawa, Shuji Wakatsuki, Toshiyuki Araki, Shuji Kaneko, Takayuki Nakagawa, Kazuo Matsubara
Impairment of peripheral neurons by anti-cancer agents, including taxanes and platinum derivatives, has been considered to be a major cause of chemotherapy-induced peripheral neuropathy (CIPN), however, the precise underlying mechanisms are not fully understood. Here, we examined the direct effects of anti-cancer agents on Schwann cells. Exposure of primary cultured rat Schwann cells to paclitaxel (0.01 μM), cisplatin (1 μM), or oxaliplatin (3 μM) for 48 h induced cytotoxicity and reduced myelin basic protein expression at concentrations lower than those required to induce neurotoxicity in cultured rat dorsal root ganglion (DRG) neurons...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28729193/the-pattern-of-retinal-ganglion-cell-dysfunction-in-leber-hereditary-optic-neuropathy
#16
A Majander, A G Robson, C João, G E Holder, P F Chinnery, A T Moore, M Votruba, A Stockman, P Yu-Wai-Man
Leber inherited optic neuropathy (LHON) is characterized by subacute bilateral loss of central vision due to dysfunction and loss of retinal ganglion cells (RGCs). Comprehensive visual electrophysiological investigations (including pattern reversal visual evoked potentials, pattern electroretinography and the photopic negative response) performed on 13 patients with acute and chronic LHON indicate early impairment of RGC cell body function and severe axonal dysfunction. Temporal, spatial and chromatic psychophysical tests performed on 7 patients with acute LHON and 4 patients with chronic LHON suggest severe involvement or loss of the midget, parasol and bistratified RGCs associated with all three principal visual pathways...
July 17, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28726788/neuroprotection-by-eif2%C3%AE-chop-inhibition-and-xbp-1-activation-in-eae-optic-neuritiss
#17
Haoliang Huang, Linqing Miao, Feisi Liang, Xiaodong Liu, Lin Xu, Xiuyin Teng, Qizhao Wang, William H Ridder, Kenneth S Shindler, Yang Sun, Yang Hu
No therapies exist to prevent neuronal deficits in multiple sclerosis (MS), because the molecular mechanism responsible for the progressive neurodegeneration is unknown. We previously showed that axon injury-induced neuronal endoplasmic reticulum (ER) stress plays an important role in retinal ganglion cell (RGC) death and optic nerve degeneration in traumatic and glaucomatous optic neuropathies. Optic neuritis, one of the most common clinical manifestations of MS, is readily modeled by experimental autoimmune encephalomyelitis (EAE) in mouse...
July 20, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28719457/regional-anesthesia-in-diabetic-peripheral-neuropathy
#18
Werner Ten Hoope, Marjolein Looije, Philipp Lirk
PURPOSE OF REVIEW: The aim of this review is to summarize recent relevant literature regarding regional anesthesia in the diabetic neuropathic patient and formulate recommendations for clinical practice. RECENT FINDINGS: Diabetic neuropathic nerves, but not nerves of diabetic patients per se, exhibit complex functional changes. As a result, they seem more sensitive to local anesthetics, and are more difficult to stimulate. When catheters are used postoperatively, diabetes is an independent risk factor for infection...
July 15, 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/28716587/botulinum-neurotoxin-a-promotes-functional-recovery-after-peripheral-nerve-injury-by-increasing-regeneration-of-myelinated-fibers
#19
Stefano Cobianchi, Jessica Jaramillo, Siro Luvisetto, Flaminia Pavone, Xavier Navarro
The injection of safe doses of botulinum neurotoxin A (BoNT/A) have been reported to be useful for the treatment of neuropathic pain, but it is still unknown how functional recovery is induced after peripheral nerve injury. We evaluated the effects of intranerve application of BoNT/A, on regeneration and sensorimotor functional recovery in partial and complete peripheral nerve injuries in the mouse. After sciatic nerve crush (SNC) and intranerve delivery of BoNT/A (15pg), axonal regeneration was measured by nerve pinch test at different days...
July 14, 2017: Neuroscience
https://www.readbyqxmd.com/read/28709447/cryptic-amyloidogenic-elements-in-mutant-nefh-causing-charcot-marie-tooth-2-trigger-aggresome-formation-and-neuronal-death
#20
Arnaud Jacquier, Cécile Delorme, Edwige Belotti, Raoul Juntas-Morales, Guilhem Solé, Odile Dubourg, Marianne Giroux, Claude-Alain Maurage, Valérie Castellani, Adriana Rebelo, Alexander Abrams, Stephan Züchner, Tanya Stojkovic, Laurent Schaeffer, Philippe Latour
Neurofilament heavy chain (NEFH) gene was recently identified to cause autosomal dominant axonal Charcot-Marie-Tooth disease (CMT2cc). However, the clinical spectrum of this condition and the physio-pathological pathway remain to be delineated. We report 12 patients from two French families with axonal dominantly inherited form of CMT caused by two new mutations in the NEFH gene. A remarkable feature was the early involvement of proximal muscles of the lower limbs associated with pyramidal signs in some patients...
July 14, 2017: Acta Neuropathologica Communications
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