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Francis B Panosyan, Rabi Tawil, David N Herrmann
INTRODUCTION: Episodic muscle weakness is the hallmark of a heterogeneous group of disorders known as periodic paralysis. A majority are due to single nucleotide mutations causing membrane depolarization. METHODS: We report 2 family members with chronic, slowly progressive, distal axonal neuropathy or Charcot-Marie-Tooth disease type 2 (CMT2) and episodic weakness resembling periodic paralysis. RESULTS: Next generation sequencing (NGS) identified a mitochondrial MT-ATP6 mutation m...
October 26, 2016: Muscle & Nerve
Simran Chahal, Kanchan Vohra, Ashit Syngle
Peripheral artery disease (PAD) is the major risk factor for cardiovascular disease and lower extremity amputation in patients with diabetes. Autonomic neuropathy is a risk factor for cardiovascular-related morbidity and mortality. Sudomotor dysfunction is well established in type 2 diabetes mellitus (T2DM) and reflects small fibre neuropathy, cardiovascular autonomic neuropathy and peripheral sympathetic autonomic neuropathy. However, the relationship between sudomotor dysfunction and PAD remains unexplored...
October 25, 2016: Neurological Sciences
Ryan A Whitehead, Nicholas L Lam, Melody S Sun, Joshua Sanchez, Shahani Noor, Arden G Vanderwall, Timothy R Petersen, Hugh B Martin, Erin D Milligan
BACKGROUND: Animal models of peripheral neuropathy produced by a number of manipulations are assessed for the presence of pathologic pain states such as allodynia. Although stimulus-induced behavioral assays are frequently used and important to examine allodynia (ie, sensitivity to light mechanical touch; von Frey fiber test), other measures of behavior that reflect overall function are not only complementary to stimulus-induced responsive measures, but are also critical to gain a complete understanding of the effects of the pain model on quality of life, a clinically relevant aspect of pain on general function...
October 24, 2016: Anesthesia and Analgesia
Eun-Sang Cho, Jin-Mu Yi, Jong-Shik Park, You Jin Lee, Chae Jun Lim, Ok-Sun Bang, No Soo Kim
BACKGROUND: Oxaliplatin can induce peripheral neuropathy (OXIPN) as an adverse side effect in cancer patients. Until now, no effective preventive or therapeutic drug has been developed; therefore, the dose-limiting factor of OXIPN is still an obstacle in the use of oxaliplatin to treat cancer patients. In the present study, we report for the first time that the aqueous extract of Lithospermi radix (WLR) can attenuate the OXIPN in both in vitro and in vivo neuropathic models. METHODS: The protective effect of WLR on OXIPN was evaluated in vitro by quantifying nerve growth factor (NGF)-stimulated neurite outgrowth in PC12 cells treated with a combination of oxaliplatin and WLR...
October 26, 2016: BMC Complementary and Alternative Medicine
Mathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, Madeleine Joubert, Jean-Michel Liet, Laure Simon, Marie Vincent, Sébastien Küry, Pierre Boisseau, Sébastien Schmitt, Sandra Mercier, Claire Bénéteau, Catherine Larrose, Marianne Coste, Xénia Latypova, Yann Péréon, Jean-Marie Mussini, Stéphane Bézieau, Bertrand Isidor
Homozygous frameshift variants in CNTNAP1 have recently been reported in patients with arthrogryposis and abnormal axon myelination. In two brothers with severe congenital hypotonia and foot deformities, we identified compound heterozygous variants in CNTNAP1, reporting the first causative missense variant, p.(Cys323Arg). Motor nerve conductions were markedly decreased. Nerve microscopical lesions confirmed a severe hypomyelinating process and showed loss of attachment sites of the myelin loops on the axons, which could be a characteristic of Caspr loss-of-function...
October 26, 2016: European Journal of Human Genetics: EJHG
K Pafili, E Maltezos, N Papanas
No abstract text is available yet for this article.
October 19, 2016: Current Vascular Pharmacology
Inge P Kleggetveit, Roland Schmidt, Barbara Namer, Hugh Salter, Tormod Helås, Martin Schmelz, Ellen Jørum
INTRODUCTION: The sodium channel Nav 1.9 is expressed in peripheral nociceptors and has recently been linked to human pain conditions, but the exact role of Nav 1.9 for human nociceptor excitability is still unclear. METHODS: C-nociceptors from two patients with late onset of erythromelalgia-like pain, signs of small fiber neuropathy, and rare genetic variants of Nav 1.9 (N1169S, I1293V) were assessed by microneurography. RESULTS: Compared with patients with comparable pain phenotypes (erythromelalgia-like pain without Nav-mutations and painful polyneuropathy), there was a tendency toward more activity-dependent slowing of conduction velocity in mechanoinsensitive C-nociceptors...
October 2016: Brain and Behavior
Michael Persky, Brian Sanders, Clark A Rosen, Joel Kahane, Yixin Fang, Milan R Amin, Ryan C Branski
OBJECTIVE: Conflicting data exist regarding false vocal fold (FVF) anatomy; it is unclear if this structure is an extension of the thyroarytenoid muscle or an independent muscle system. This confusion is amplified by diverse clinical findings in the setting of unilateral recurrent laryngeal neuropathy and presbylarynges. We sought to characterize FVF behavior in these contexts. METHODS: Laryngoscopic/stroboscopic examinations from 11 patients with unilateral recurrent laryngeal nerve paresis and 12 patients with presbylarynges were reviewed by 4 laryngologists, blinded to the goal of the study but informed of diagnosis...
October 25, 2016: Annals of Otology, Rhinology, and Laryngology
Brit Long, Alex Koyfman
BACKGROUND: Stroke is a leading cause of death and disability and most commonly presents with focal neurologic deficit within a specific vascular distribution. Several other conditions may present in a similar manner. OBJECTIVES: This review provides emergency providers with an understanding of stroke mimics, use of thrombolytics in these mimics, and keys to differentiate true stroke from mimic. DISCUSSION: Stroke has significant morbidity and mortality, and the American Heart Association emphasizes rapid recognition and aggressive treatment for patients with possible stroke-like symptoms, including thrombolytics...
October 22, 2016: Journal of Emergency Medicine
J M Pardal-Fernandez, B Godes-Medrano, A Grande, T Segura
No abstract text is available yet for this article.
November 1, 2016: Revista de Neurologia
Miriam Friedemann
In November 2012, 23 cases of ciguatera with typical combinations of gastrointestinal and neurological symptoms occurred in Germany after consumption of imported tropical fish (Lutjanus spp.). A questionnaire was used to gather information on the disease course and fish consumption. All patients suffered from pathognomonic cold allodynia. Aside from two severe courses of illness, all other cases showed symptoms of moderate intensity. During a three-year follow-up, seven patients reported prolonged paresthesia for more than one year...
October 24, 2016: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
Zhongyuan Xia, Yun Xiao, Yang Wu, Bo Zhao
Paclitaxel-induced peripheral neuropathy is not completely known. Since the sodium channel Nav1.7 has been implicated in pain perception, and is upregulated in pain disorders, we investigated the effect of paclitaxel on Nav1.7 expression in rat dorsal root ganglion (DRG) neurons. Thirty Sprague-Dawley rats were administered either 2 mg/kg paclitaxel or vehicle on days 0, 2, 4 and 6. To evaluate nociceptive responses, paw withdrawal threshold (PWT) was measured by von Frey anesthesiometer on days 7, 14 and 21 after first paclitaxel administration...
2016: SpringerPlus
Dilip Sharma, Jitendra Narain Singh, Shyam S Sharma
Mechanisms and pathways involving in diabetic neuropathy are still not fully understood but can be unified by the process of overproduction of reactive oxygen species (ROS) such as superoxide, endoplasmic reticulum (ER) stress, downstream intracellular signaling pathways and their modulation. Susceptibility of dorsal root ganglion (DRG) to internal/external hyperglycemic environment stress contributes to the pathogenesis and progression of diabetic neuropathy. ER stress leads to abnormal ion channel function, gene expression, transcriptional regulation, metabolism and protein folding...
October 21, 2016: Neuroscience Letters
Sven Jarius, Marius Ringelstein, Jürgen Haas, Irina I Serysheva, Lars Komorowski, Kai Fechner, Klaus-Peter Wandinger, Philipp Albrecht, Harald Hefter, Andreas Moser, Eva Neuen-Jacob, Hans-Peter Hartung, Brigitte Wildemann, Orhan Aktas
BACKGROUND: Recently, we described a novel autoantibody, anti-Sj/ITPR1-IgG, that targets the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) in patients with cerebellar ataxia. However, ITPR1 is expressed not only by Purkinje cells but also in the anterior horn of the spinal cord, in the substantia gelatinosa and in the motor, sensory (including the dorsal root ganglia) and autonomic peripheral nervous system, suggesting that the clinical spectrum associated with autoimmunity to ITPR1 may be broader than initially thought...
October 24, 2016: Journal of Neuroinflammation
Lourdes Mateos-Hernández, Margarita Villar, Ernesto Doncel-Pérez, Marco Trevisan-Herraz, Ángel García-Forcada, Francisco Romero Ganuza, Jesús Vázquez, José de la Fuente
Guillain-Barré syndrome (GBS) is an autoimmune-mediated peripheral neuropathy of unknown cause. However, about a quarter of GBS patients have suffered a recent bacterial or viral infection, and axonal forms of the disease are especially common in these patients. Proteomics is a good methodological approach for the discovery of disease biomarkers. Until recently, most proteomics studies of GBS and other neurodegenerative diseases have focused on the analysis of the cerebrospinal fluid (CSF). However, serum represents an attractive alternative to CSF because it is easier to sample and has potential for biomarker discovery...
October 20, 2016: Oncotarget
Matthew Osmond, Sarah M Bernier, Mina B Pantcheva, Melissa D Krebs
Glaucoma is a disease in which damage to the optic nerve leads to progressive, irreversible vision loss. The intraocular pressure (IOP) is the only modifiable risk factor for glaucoma and its lowering is considered a useful strategy for preventing or slowing down the progression of glaucomatous neuropathy. Elevated intraocular pressure associated with glaucoma is due to increased aqueous humor outflow resistance, primarily through the trabecular meshwork (TM) of the eye. Current in vitro models of the trabecular meshwork are oversimplified and do not capture the organized and complex three-dimensional nature of this tissue that consists primarily of collagen and glycoasaminoglycans...
October 24, 2016: Biotechnology and Bioengineering
Rifang Liao, Fengxia Yan, Zhuanping Zeng, Mohd Farhan, Peter Little, Remi Quirion, Lalit K Srivastava, Wenhua Zheng
Amiodarone (AM) is the most effective antiarrhythmic agent currently available. However, clinical application of AM is limited by its serious toxic adverse effects including optic neuropathy. The purpose of this study was to explore the effects of AM and to assess if insulin-like growth factor-1 (IGF-1) could protect retinal neuronal cells from AM-induced apoptosis, and to determine the molecular mechanisms underlying the effects. Accordingly, the phosphorylation/activation of Akt and FoxO3a were analyzed by Western blot while the possible pathways involved in the protection of IGF-1 were investigated by application of various pathway inhibitors...
October 24, 2016: Molecular Neurobiology
Matthew S Yorek, Lawrence J Coppey, Hanna Shevalye, Alexander Obrosov, Randy H Kardon, Mark A Yorek
Aims. In this study a streptozotocin induced type 1 diabetes mouse model was used to assess the effectiveness of salsalate, menhaden oil, the combination of salsalate and menhaden oil, or resolvin D1 on neuropathic endpoints. Materials and Methods. Changes in body weight, blood glucose, serum markers for triglycerides, free fatty acids, cholesterol, and resolvin D1, motor and sensory nerve conduction velocities and thermal sensitivity were assessed, as well as performing in vivo confocal microscopy of subepithelial corneal nerves and immunohistochemistry of nerves in the cornea and foot pad...
2016: Journal of Nutrition and Metabolism
Xiaohui Duan, Weihong Gu, Ying Hao, Renbin Wang, Hong Wen, Shaojie Sun, Jinsong Jiao, Dongsheng Fan
Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves. Mutations in MPZ have been associated with different Charcot-Marie-Tooth disease (CMT) phenotypes (CMT1B, CMT2I/J, CMTDI), Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. Here, we report phenotypic variability in a four-generation Chinese family with the MPZ mutation Asp121Asn. Genetic testing was performed on nine family members and 200 controls. Clinical, electrophysiological and skeletal muscle MRI assessments were available for review in six family members...
2016: Frontiers in Aging Neuroscience
Nicola J Stagg, Ben-Quan Shen, Flavia Brunstein, Chunze Li, Amrita V Kamath, Fiona Zhong, Melissa Schutten, Bernard M Fine
Antibody drug conjugates (ADC) consist of potent cytotoxic drugs conjugated to antibodies via chemical linkers, which enables specific targeting of tumor cells while reducing systemic exposure to the cytotoxic drug and improving the therapeutic window. The valine citrulline monomethyl auristatin E (vcMMAE, conventional linker-drug) ADC platform has shown promising clinical activity in several cancers, but peripheral neuropathy (PN) is a frequent adverse event leading to treatment discontinuation and dose reduction...
October 20, 2016: Regulatory Toxicology and Pharmacology: RTP
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