Search Our Scientific Publications & Authors

Hum Mol Genet 2018 Nov 27. Epub 2018 Nov 27.

DIBIT, Divisions of Genetics and Cell Biology.

Charcot-Marie-Tooth neuropathies (CMTs) are a group of genetic disorders that affect the peripheral nervous system (PNS) with heterogeneous pathogenesis and no available treatment. Axonal Neuregulin 1 type III (Nrg1TIII) drives peripheral nerve myelination by activating downstream signaling pathways such as PI3K/Akt and MAPK/Erk that converge on master transcriptional regulators of myelin genes, such as Krox20. We reasoned that modulating Nrg1TIII activity may constitute a general therapeutic strategy to treat CMTs that are characterized by reduced levels of myelination. Read More

J Neurol 2018 Nov 22. Epub 2018 Nov 22.

Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust, Sheffield, UK.

The primary aim of this systematic review was to establish the prevalence, character, and risk factors of peripheral neuropathy amongst chronic alcohol abusers and to identify the most appropriate management strategies. In this review, possible pathogenetic mechanisms are also discussed. A systematic, computer-based search was conducted using the PubMed database. Read More

Breast Cancer Res Treat 2018 Nov 21. Epub 2018 Nov 21.

Department of Medical Oncology, Institut Jules Bordet and Université Libre de Bruxelles (ULB), Boulevard de Waterloo 121, 1000, Brussels, Belgium.

Purpose: Standard adjuvant chemotherapy for HER2-negative breast cancer consists generally in an anthracycline and taxane-based regimen (A+T). The TC (docetaxel and cyclophosphamide) regimen arises as a potential alternative, although individual randomized controlled trials (RCTs) could not demonstrate the non-inferiority of TC over A+T. This is a systematic review and meta-analysis of RCTs comparing 6 cycles of TC versus sequential A+T in the adjuvant treatment of HER2-negative breast cancer. Read More

Clin Liver Dis 2019 Feb;23(1):141-155

Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, 7200 Cambridge Street, 9th Floor, MS:BCM609, Houston, TX 77030, USA. Electronic address:

Chronic alcohol use induces silent changes in the structure and function of the central and peripheral nervous systems that eventually result in irreversible, debilitating repercussions. Once identified, nutritional supplementation and cessation measures are critical in preventing further neurologic damage. The proposed mechanisms of neuronal injury in chronic alcohol abuse include direct toxic effects of alcohol and indirect effects, including those resulting from hepatic dysfunction, nutritional deficiencies, and neuroinflammation. Read More

Clin Toxicol (Phila) 2018 Nov 17:1-11. Epub 2018 Nov 17.

a Toxicological Information Centre, Department of Occupational Medicine, First Faculty of Medicine , Charles University and General University Hospital , Prague , Czech Republic.

Context: Methanol poisoning induces acute optic neuropathy with possible long-term visual damage.

Objective: To study the dynamics and key determinants of visual pathway functional changes during 4 years after acute methanol poisoning.

Methods: A total of 42 patients with confirmed methanol poisoning (mean age 45. Read More

Front Pharmacol 2018 17;9:1114. Epub 2018 Oct 17.

Pharmacy Department, Affiliated Hospital of Zunyi Medical University, Zunyi, China.

Skin ulcers are a serious complication of diabetes. Diabetic patients suffer from vascular lesions and complications such as peripheral neuritis, peripheral vascular lesions, and collagen abnormalities, which result in skin wounds that are refractory and often develop into chronic ulcers. The healing of skin ulcers requires an inflammatory reaction, wound proliferation, remodeling regulation, and control of stem cells. Read More

Glia 2018 Oct 30. Epub 2018 Oct 30.

INSERM U1051, Institut des Neurosciences de Montpellier (INM), Université de Montpellier, Montpellier, France.

Myelinating Schwann cells undergo irreversible demyelination in many demyelinating neuropathies that show complete demyelination of the internode. Dedifferentiation, reprogramming, and myelin clearance processes-which are specifically discussed in this article-appear to be shared by various demyelinating peripheral conditions, such as Wallerian degeneration, immune-mediated, and toxic demyelinating diseases. We propose to introduce the concept of the "demyelinating Schwann cell (DSC)" as a novel cell phenotype, which has specific properties required for myelin sheath clearance. Read More

Cutan Ocul Toxicol 2018 Nov 26:1-5. Epub 2018 Nov 26.

d Department of Biochemistry , Atatürk University , Erzurum , Turkey.

Aim: Ethambutol and isoniazid are two major effective first line agents in tuberculosis treatment having some visual adverse effects. We aimed to determine the protective effects of lutein on oxidative optic neuropathy induced by ethambutol and isoniazid in an experimental model.

Material And Method: Totally 24 albino Wistar male rats were assigned into 4 groups, with 6 rats in each group as follows: healthy controls (HC group), 50 mg/kg ethambutol +50 mg/kg isoniazid administered group (EI), 0. Read More

Front Neurosci 2018 9;12:712. Epub 2018 Oct 9.

Molecular Biotechnology Center, Department of Molecular Biotechnology and Health Sciences, University of Torino, Turin, Italy.

Heme (iron-protoporphyrin IX) is an essential co-factor involved in several biological processes, including neuronal survival and differentiation. Nevertheless, an excess of free-heme promotes oxidative stress and lipid peroxidation, thus leading to cell death. The toxic properties of heme in the brain have been extensively studied during intracerebral or subarachnoid hemorrhages. Read More

Int J Immunopathol Pharmacol 2018 Jan-Dec;32:2058738418805322

1 The First Affiliated Hospital of Dalian Medical University, Liaoning, China.

Acrylamide (ACR), formed during the Maillard reaction induced by high temperature in food processing, is one of the main causes of neurodegenerative diseases. Taurine, a free intracellular β-amino acid, is characterized by many functions, including antioxidation, anti-inflammatory, and neuroprotective properties. This promotes its application in the treatment of neurodegenerative diseases. Read More

Rinsho Ketsueki 2018;59(10):2162-2168

Department of Hematology & Oncology, Nagoya City University Graduate School of Medical Sciences.

Multiple myeloma (MM) is a mature plasma cell neoplasm characterized by the excessive production of monoclonal antibodies and various cytokines. Therefore, MM cells are highly dependent on the ubiquitin-proteasome pathway and the well-differentiated unfolded protein response in the endoplasmic reticulum. Bortezomib, the first approved proteasome inhibitor (PI) for the treatment of MM, is widely used as a therapeutic agent for patients with MM, including newly diagnosed and relapsed/refractory (RR) cases. Read More

Sci Rep 2018 Oct 5;8(1):14891. Epub 2018 Oct 5.

McClellan Veterans Medical Center, Central Arkansas Veterans Healthcare Service, Little Rock, AR, 72205, USA.

Toxic protein aggregates are key features of progressive neurodegenerative diseases. In addition to "seed" proteins diagnostic for each neuropathy (e.g. Read More

Pharmacol Res 2018 Nov 29;137:104-113. Epub 2018 Sep 29.

College of Health and Biomedicine, Institute for Health and Sport, Victoria University, Melbourne, Australia; Department of Medicine Western Health, Melbourne University, Melbourne, Australia; Australian Institute of Musculoskeletal Science (AIMSS), Melbourne, Australia. Electronic address:

Cisplatin, carboplatin and oxaliplatin represent the backbone of platinum therapy for several malignancies including head and neck, lung, colorectal, ovarian, breast, and genitourinary cancer. However, the efficacy of platinum-based drugs is often compromised by a plethora of severe toxicities including sensory and enteric neuropathy. Acute and chronic neurotoxicity following platinum chemotherapy is a major constraint, contributing to dose-reductions, treatment delays, and cessation of treatment. Read More

Adv Exp Med Biol 2018 ;1087:239-243

Cleveland Clinic Lerner Research Institute, Cleveland, OH, USA.

Circular RNAs (circRNAs) represent a special group of noncoding single-stranded highly stable ribonucleic acid entities abundant in the eukaryotic transcriptome. These circular forms of RNAs are significantly enriched in human brain and retinal tissues. However, the biological evolution and function of these circRNAs are poorly understood. Read More

Medicine (Baltimore) 2018 Sep;97(36):e12254

Rationale: Sciatic neuropathy has various causes; however, cases in which a pressure ulcer led to sciatic neuropathy have not been reported to date.

Patient Concerns: A 33-year-old woman with no pre-existing mobility problems visited our department with the chief complaint of an extensive pressure ulcer and necrosis in her right buttock. She had a medical history of being bedridden for 2 days while in a coma due to a drug overdose 2 months previously. Read More

J Basic Clin Physiol Pharmacol 2018 Sep 3. Epub 2018 Sep 3.

Maulana Azad Medical College, Department of Pharmacology, New Delhi, India.

Oncology (Williston Park) 2018 08;32(8):418-20, 422-4

The carboplatin/paclitaxel doublet remains the chemotherapy backbone for the initial treatment of ovarian cancer. This two-drug regimen, with carboplatin dosed using the Calvert formula, yielded convincing noninferior outcomes when compared with the prior, more toxic, regimen of cisplatin/paclitaxel. Carboplatin's dose-limiting toxicity is thrombocytopenia; however, when this drug is properly dosed and combined with paclitaxel, the doublet's cycle 1 dose in chemotherapy-naive women is generally safe. Read More

Int Ophthalmol 2018 Aug 13. Epub 2018 Aug 13.

West Virginia University Eye Institute, 1 Medical Center Dr, Morgantown, WV, 26506, USA.

Purpose: To report a case of toxic optic neuropathy caused by an ocular bee sting.

Methods: Case report and literature review.

Results: A 44-year-old female presented with no light perception vision 2 days after a corneal bee sting in her right eye. Read More

Biomed Pharmacother 2018 Nov 8;107:306-328. Epub 2018 Aug 8.

Department of Physiology, University of Gour Banga, Mokdumpur, Malda 732103, India. Electronic address:

Chronic exposure of glucose rich environment creates several physiological and pathophysiological changes. There are several pathways by which hyperglycemia exacerbate its toxic effect on cells, tissues and organ systems. Hyperglycemia can induce oxidative stress, upsurge polyol pathway, activate protein kinase C (PKC), enhance hexosamine biosynthetic pathway (HBP), promote the formation of advanced glycation end-products (AGEs) and finally alters gene expressions. Read More

Neurotox Res 2018 Aug 7. Epub 2018 Aug 7.

Departamento de Análises Clínicas, Toxicológicas e Bromatológicas, Faculdade de Ciências Farmacêuticas de Ribeirão Preto-FCFRP, Universidade de São Paulo, USP, Avenida do Café s/n, Ribeirão Preto, SP, 14040-903, Brazil.

Organophosphorus (OPs) compounds have been widely used in agriculture, industry, and household, and the neurotoxicity induced by them is still a cause of concern. The main toxic mechanism of OPs is the inhibition of acetylcholinesterase (AChE); however, the delayed neuropathy induced by OPs (OPIDN) is mediated by other mechanisms such as the irreversible inhibition of 70% of NTE activity (neuropathy target esterase) that leads to axonal degeneration. Liraglutide is a long-lasting GLP-1 analog clinically used as antidiabetic. Read More

Mitochondrion 2018 Aug 4. Epub 2018 Aug 4.

Doheny Eye Institute, 1355 San Pablo Street, Los Angeles, CA 90033, USA; Doheny Eye Center, Department of Ophthalmology, David Geffen School of Medicine at UCLA, 800 South Fairmount Avenue, Suite 215, Pasadena, CA 91105, USA; The Ottawa Eye Institute, University of Ottawa, 501 Smyth Rd, Ottawa, ON K1H 8M2, Canada; Ottawa Hospital Research Institute, 1053 Carling Avenue, Ottawa, ON K1Y 4E9, Canada.

Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder characterized by acute bilateral vision loss. The pathophysiology involves reactive oxygen species (ROS), which can be affected by medications. This article reviews the evidence for medications with demonstrated and theoretical effects on mitochondrial function, specifically in relation to increased ROS production. Read More

Curr Eye Res 2018 Oct 7;43(10):1199-1204. Epub 2018 Aug 7.

a Department of Ophthalmology , University of California , Irvine , CA , USA.

There is growing evidence for the role of mitochondrial dysfunction in the toxic optic neuropathies. Due to the structural similarities between antibiotic targets and mitochondrial machinery, several antibiotics known to cause optic neuropathy have deleterious effects on mitochondrial function. We review the literature on the prevalence, clinical manifestations, and management of antibiotic induced toxic optic neuropathies. Read More

J Cancer Res Clin Oncol 2018 Oct 17;144(10):1851-1859. Epub 2018 Jul 17.

Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University, 37 Guoxue Xiang, Chengdu, 610041, China.

Background: Significant improvement in survival outcome with the programmed death 1 (PD-1)/programmed death ligand 1 (PD-L1) inhibitors has been shown in advanced non-small cell lung cancer (NSCLC) patients compared with chemotherapy. However, the full spectrum of toxic events of PD-1/PD-L1 inhibitors was not well characterized. We conducted a comprehensive meta-analysis to state the safety profile of PD-1/PD-L1 inhibitors in NSCLC, and identify the exact incidence and relative risk (RR) of both summary and detailed AEs. Read More

Essays Biochem 2018 07 20;62(3):467-481. Epub 2018 Jul 20.

Department of Neurology, Columbia University Medical Center, New York, NY, U.S.A.

For the vast majority of patients with mitochondrial diseases, only supportive and symptomatic therapies are available. However, in the last decade, due to extraordinary advances in defining the causes and pathomechanisms of these diverse disorders, new therapies are being developed in the laboratory and are entering human clinical trials. In this review, we highlight the current use of dietary supplement and exercise therapies as well as emerging therapies that may be broadly applicable across multiple mitochondrial diseases or tailored for specific disorders. Read More

JAMA Oncol 2018 Oct;4(10):1344-1351

Genitourinary Oncology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.

Importance: Preferential delivery of docetaxel to tumors by prostate-specific membrane antigen (PSMA)-targeted nanoparticles is clinically effective, and the selective reduction of PSMA-positive circulating tumor cells (CTCs) after treatment has implications for patient selection and disease monitoring.

Objective: To determine the safety and efficacy of BIND-014, a PSMA-directed docetaxel-containing nanoparticle, in patients with metastatic castration-resistant prostate cancer (mCRPC).

Design, Setting, And Participants: A multicenter open-label, phase 2 clinical trial of 42 chemotherapy-naive patients with progressing mCRPC after treatment with abiraterone acetate and/or enzalutamide was conducted from June 24, 2013, to June 10, 2016. Read More

Int Med Case Rep J 2018 25;11:145-150. Epub 2018 Jun 25.

Department of Ophthalmology, Kurume University School of Medicine, Kurume, Japan,

Purpose: This study aimed to demonstrate the clinical usefulness of measuring the macular ganglion cell complex (GCC) for the early detection of axonal loss in eyes with bilateral retrobulbar optic neuropathies.

Patients And Methods: We retrospectively reviewed the medical records of three patients with bilateral toxic, ischemic, or infiltrative retrobulbar optic neuropathy.

Results: No relative afferent pupillary defect was detected in any patients. Read More

Asia Pac J Ophthalmol (Phila) 2018 Jul-Aug;7(4):218-228. Epub 2018 Jul 2.

Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, Missouri.

The etiologies of optic neuropathy include inflammation, ischemia, toxic and metabolic injury, genetic disease, and trauma. There is little controversy over the practice of using steroids in the treatment of optic neuritis--it is well established that intravenous steroid treatment can speed visual recovery but does not alter final visual function. However, there is controversy surrounding the acceptable routes of administration, dosage, and course of treatment. Read More

J Hematol Oncol 2018 Jun 28;11(1):87. Epub 2018 Jun 28.

Clinical Research Division, Fred Hutchinson Cancer Research Center, Department of Medicine, University of Washington, Seattle, WA, USA.

Background: Mantle cell lymphoma (MCL) is an aggressive and incurable lymphoma. Standard of care for younger patients with MCL is induction chemotherapy followed by autologous stem cell transplantation (auto-HCT). Rituximab maintenance after auto-HCT has been shown to improve progression-free survival (PFS) and overall survival (OS) in MCL. Read More

Scand J Pain 2011 Oct 1;2(4):178-184. Epub 2011 Oct 1.

Department of Pharmacology and Pharmacotherapy, Faculty of Pharmaceutical Sciences, University of Copenhagen, Universitetsparken 2, DK-2100 Copenhagen, Denmark.

Introduction The pathophysiologic and neurochemical characteristics of neuropathic pain must be considered in the search for new treatment targets. Breakthroughs in the understanding of the structural and biochemical changes in neuropathy have opened up possibilities to explore new treatment paradigms. However, long term sequels from the damage are still difficult to treat. Read More

BMC Pharmacol Toxicol 2018 Jun 5;19(1):28. Epub 2018 Jun 5.

Wollega University, Nekemte, Ethiopia.

Background: Human Immunodeficiency Virus (HIV) is one of the main causes of morbidity and mortality; because of this it continues to be a major global public health concern. It has believed to kill more than 34 million lives so far. Sub Saharan Africa constitutes about 70% of people living with HIV among the 37 million on the globe. Read More

Int J Ophthalmol 2018 18;11(5):780-785. Epub 2018 May 18.

Department of Pharmacology, Erzincan University Hospital, College of Medicine, Erzincan 24100, Turkey.

Aim: To determine the effects of Rutin on methanol induced optic neuropathy and compare the results with the effects of ethanol.

Methods: Totally 30 rats were divided into 5 groups, with 6 rats in each group as follows: healthy controls (C), methotrexate (MTX), methotrexate+methanol (MTM), methotrexate+methanol+ethanol (MTME) and methotrexate+ methanol+Rutin (MTMR). In all rabbits except those of the control group, MTX, diluted in sterile serum physiologic, 0. Read More

Am J Emerg Med 2018 Sep 24;36(9):1717.e1-1717.e2. Epub 2018 May 24.

Beth Israel, United States. Electronic address:

A 24-year-old female, otherwise healthy, presented to the Emergency Department (ED) with difficulty walking and bilateral leg pain. The patient was a recreational nitrous oxide (NO) user, also known as "whippets" or simply nitrous. Neurologic examination demonstrated an unsteady gait and positive Romberg sign along with normal deep tendon reflexes and normal muscle strength in upper and lower extremities. Read More

Med Oncol 2018 May 31;35(7):101. Epub 2018 May 31.

Laboratory of Molecular Oncology, Hellenic Foundation for Cancer Research/Aristotle University of Thessaloniki, Thessaloniki, Greece.

This clinical trial assessed the efficacy and toxicity of panitumumab combined with oxaliplatin and capecitabine as first-line treatment in KRAS exon 2 wild-type metastatic colorectal cancer (mCRC) patients. Patients with exon 2 KRAS wild-type mCRC received panitumumab 9 mg/Kg, oxaliplatin 130 mg/m, and capecitabine 2000 mg/m repeated every 3 weeks. The primary endpoint was objective response rate (ORR, minimum 42 responses). Read More

JAMA Neurol 2018 Aug;75(8):980-988

Brain and Mind Centre, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.

Importance: In light of the excellent long-term survival of childhood cancer patients, it is imperative to screen for factors affecting health, function, and quality of life in long-term survivors.

Objective: To comprehensively assess chemotherapy-induced peripheral neuropathy in childhood cancer survivors to define disease burden and functional effect and to inform screening recommendations.

Design, Setting, And Participants: In this cross-sectional observational study, cancer survivors who were treated with chemotherapy for extracranial malignancy before age 17 years were recruited consecutively between April 2015 and December 2016 from a single tertiary hospital-based comprehensive cancer survivorship clinic and compared with healthy age-matched controls. Read More

Ophthalmol Ther 2018 Jun 24;7(1):167-172. Epub 2018 May 24.

Ophthalmology Department, Universitas Padjadjaran, Bandung, Indonesia.

Introduction: The incidence of blindness due to methanol intoxication is higher in males of productive age. The management of methanol-induced toxic optic neuropathy is yet to produce satisfactory results. Antioxidant therapy is now used as an alternative method of preventing methanol intoxication. Read More

MEDICC Rev 2018 Apr;20(2):27-31

Neurology and Neurosurgery Institute, Havana, Cuba.

From 1991 to 1993, an epidemic of optic and peripheral neuropathy-the largest of the century-broke out in Cuba, affecting more than 50,000 people. Initially the main clinical features were decreased visual acuity, central and cecocentral scotomas, impaired color vision and absence of the papillomacular bundle. Later, peripheral and mixed optic-peripheral forms began to appear. Read More

Bull Exp Biol Med 2018 Apr 27;164(6):798-802. Epub 2018 Apr 27.

State Research Testing Institute of Military Medicine, Ministry of Defense of the Russian Federation, St. Petersburg, Russia.

We compared the efficiency of delivery of plasmid DNA (active ingredient concentration 1 mg/kg) that provides production of nerve growth factor (NGF) after intravenous administration to rats and after administration by hydroporation. The method of hydroporation ensured plasmid penetration into the liver tissue and lengthened the time of its detection in the organ. DNA concentration in 1 h after its introduction by hydroporation or intravenous route was 0. Read More

J Peripher Nerv Syst 2018 Jun 11;23(2):129-133. Epub 2018 May 11.

Department of Neurology, University of Minnesota, Minneapolis, Minnesota.

Peripheral neuropathy is a common side effect of many chemotherapeutic agents including paclitaxel. We prospectively evaluated demographic and laboratory data in a cohort of 61 woman with breast cancer prior to paclitaxel exposure to explore factors that predispose to neuropathy development. Neuropathy was graded based on the total neuropathy score reduced version (rTNS) at baseline and at 4 months after initiation of chemotherapy. Read More

Cutan Ocul Toxicol 2018 Dec 24;37(4):319-323. Epub 2018 Apr 24.

a Department of General Ophthalmology , Medical University , Lublin , Poland.

Purpose: To measure the area of central scotoma obtained with semi-automated kinetic perimetry (SKP) in patients suffering from tobacco-alcohol toxic neuropathy (TATN).

Methods: Twelve eyes of six patients with TATN were examined with SKP. Area of central scotoma was measured in square degrees (deg). Read More

Optom Vis Sci 2018 May;95(5):468-474

Salem Veterans Affairs Medical Center, Salem, Virginia.

Significance: This case illustrates a novel screening protocol for linezolid-induced toxic optic neuropathy.

Purpose: To present a case report and analysis of linezolid-induced optic neuropathies in adult patients to develop screening recommendations.

Case Report: A case report of optic neuropathy from extended use of linezolid illustrates its potential effects on vision. Read More

Can J Cardiol 2018 May 16;34(5):605-614. Epub 2018 Jan 16.

Division of Endocrinology, Department of Medicine, Centre de recherche du CHUS, Université de Sherbrooke, Sherbrooke, Québec, Canada. Electronic address:

Patients with diabetes are at very high risk of hospitalization and death from heart failure. Increased prevalence of coronary heart disease, hypertension, autonomic neuropathy, and kidney failure all play a role in this increased risk. However, cardiac metabolic abnormalities are now recognized to play a role in this increased risk. Read More

J Neurosci 2018 May 2;38(18):4275-4287. Epub 2018 Apr 2.

Division of Genetics and Cell Biology, San Raffaele Scientific Institute, DIBIT, Milan, Italy 20132,

Schwann cell differentiation and myelination in the PNS are the result of fine-tuning of positive and negative transcriptional regulators. As myelination starts, negative regulators are downregulated, whereas positive ones are upregulated. Fully differentiated Schwann cells maintain an extraordinary plasticity and can transdifferentiate into "repair" Schwann cells after nerve injury. Read More

Pain Physician 2018 03;21(2):111-120

Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Foundation Trust, UK.

Background: Neuropathic pain (NP) is a common symptom caused by lesions or diseases of the somatosensory nervous system. Acute/subacute peripheral neuropathies (APN) are rare, however can be particularly painful.

Objectives: The aim of this systematic review was to estimate the incidence of NP in APN and overview the various etiologies of such neuropathies. Read More

J Peripher Nerv Syst 2018 Jun 26;23(2):143-146. Epub 2018 Mar 26.

National Referral Center for Neuromuscular Diseases, Institut Hospitalo-Universitaire (IHU) de Neurosciences, University Hospital Pitié Salpêtrière, Paris, France.

A 59-year-old woman presented with progressive paresthesias of all of her limbs for 4 years, associated with neuropathic pain, tingling in the tongue and allodynia, consistent with small fiber neuropathy (SFN). Several systemic symptoms and signs were found on clinical examination and laboratory work-up. Neurological investigations including neurophysiologic test and skin biopsy supported the diagnosis of SFN. Read More

Mol Cell Neurosci 2018 04 7;88:319-329. Epub 2018 Mar 7.

Wollongong Isotope Geochronology Laboratory and School of Earth and Environmental Sciences, University of Wollongong, Australia.

Background: Amyotrophic lateral sclerosis (ALS) is among the most common of the motor neuron diseases, and arguably the most devastating. During the course of this fatal neurodegenerative disorder, motor neurons undergo progressive degeneration. The currently best-understood animal models of ALS are based on the over-expression of mutant isoforms of Cu/Zn superoxide dismutase 1 (SOD1); these indicate that there is a perturbation in metal homeostasis with disease progression. Read More

Front Mol Neurosci 2018 22;11:55. Epub 2018 Feb 22.

MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, United Kingdom.

Dominant mutations in , encoding the ubiquitous enzyme glycyl-tRNA synthetase (GlyRS), cause peripheral nerve degeneration and Charcot-Marie-Tooth disease type 2D (CMT2D). This genetic disorder exemplifies a recurring paradigm in neurodegeneration, in which mutations in essential genes cause selective degeneration of the nervous system. Recent evidence suggests that the mechanism underlying CMT2D involves extracellular neomorphic binding of mutant GlyRS to neuronally-expressed proteins. Read More

J Neuroinflammation 2018 Feb 27;15(1):61. Epub 2018 Feb 27.

Department of Neuroinflammation, Institute of Neurology (Queen Square), University College London, 1 Wakefield Street, London, WC1N 1PJ, UK.

Background: Small-diameter, myelinated axons are selectively susceptible to dysfunction in several inflammatory PNS and CNS diseases, resulting in pain and degeneration, but the mechanism is not known.

Methods: We used in vivo confocal microscopy to compare the effects of inflammation in experimental autoimmune neuritis (EAN), a model of Guillain-Barré syndrome (GBS), on mitochondrial function and transport in large- and small-diameter axons. We have compared mitochondrial function and transport in vivo in (i) healthy axons, (ii) axons affected by experimental autoimmune neuritis, and (iii) axons in which mitochondria were focally damaged by laser induced photo-toxicity. Read More

Dtsch Arztebl Int 2018 Feb;115(6):83-90

Department of Neurology, University Hospital Würzburg; DRK Pain Center Mainz; Department of Sleep Medicine and Neuromuscular Disorders, Münster University; University Orthopedic Clinic Erlangen; Department of Neurology, University Hospital Mainz; Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians-Universität Munich.

Background: Polyneuropathies (peripheral neuropathies) are the most common type of disorder of the peripheral nervous system in adults, and specifically in the elderly, with an estimated prevalence of 5-8%, depending on age. The options for treatment depend on the cause, which should therefore be identified as precisely as possible by an appropriate diagnostic evaluation.

Methods: This review is based on the current guidelines and on large-scale cohort studies and randomized, controlled trials published from 2000 to 2017, with an emphasis on non-hereditary types of polyneuropathy, that were retrieved by a selective search in PubMed. Read More