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https://www.readbyqxmd.com/read/29412501/region-specific-ischemia-neovascularization-and-macular-edema-in-treatment-na%C3%A3-ve-proliferative-diabetic-retinopathy
#1
Jason Lange, Majda Hadziahmetovic, Jingfa Zhang, Weiye Li
IMPORTANCE: Region-specific pathology in proliferative diabetic retinopathy enhances our understanding and management of this disease. BACKGROUND: To investigate non-perfusion, neovascularization, and macular edema. DESIGN: A cross-sectional, observational, non-randomized study. PARTICIPANTS: Consecutive 43 eyes of 27 treatment-naïve patients. METHODS: Ultra-widefield fluorescein angiography for studying specific zones, i...
February 7, 2018: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/29364399/rapidly-progressive-subacute-motor-neuronopathy-disclosing-type-b2-thymoma
#2
Paulo Victor Sgobbi de Souza, Thiago Bortholin, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
No abstract text is available yet for this article.
January 2018: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29318453/sensory-neuronopathy-heralding-human-t-cell-lymphotropic-virus-type-i-myelopathy
#3
Alberto R M Martinez, Raphael F Casseb, Carlos R Martins, Anamarli Nucci, Marcondes C França
Neurological phenotypes of human T cell lymphotropic virus type I (HTLV-1) are numerous and rarely may not manifest the classic HTLV-associated myelopathy/tropical spastic paraparesis (HAM/TSP). We report a case of HTLV-1-related sensory neuronopathy heralding the classic HAM/TSP.
January 9, 2018: Journal of Neurovirology
https://www.readbyqxmd.com/read/29316033/peripheral-nerves-are-pathologically-small-in-cerebellar-ataxia-neuropathy-vestibular-areflexia-syndrome-canvas-a-controlled-ultrasound-study
#4
Luciana Pelosi, Eoin Mulroy, Ruth Leadbetter, Dean Kilfoyle, Andrew M Chancellor, Stuart Mossman, Laurie Wing, Teddy Y Wu, Richard H Roxburgh
BACKGROUND: Sensory neuronopathy is a cardinal feature of Cerebellar Ataxia Neuropathy Vestibular Areflexia Syndrome (CANVAS). Having observed that two patients with CANVAS had small median and ulnar nerves on ultrasound, we set out to examine this finding systematically in a cohort of patients with CANVAS, and compare them with both healthy controls and a cohort of patients with axonal neuropathy. We have previously reported preliminary findings in seven of these CANVAS patients and seven healthy controls...
January 5, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29283439/homozygous-boricua-tbck-mutation-causes-neurodegeneration-and-aberrant-autophagy
#5
Xilma R Ortiz-González, Jesus A Tintos-Hernández, Kierstin Keller, Xueli Li, A Reghan Foley, Diana X Bharucha-Goebel, Sudha K Kessler, Sabrina W Yum, Peter B Crino, Miao He, Douglas C Wallace, Carsten G Bönnemann
OBJECTIVE: Autosomal recessive mutations in TBCK cause intellectual disability of variable severity. Although the physiologic function of TBCK remains unclear, loss-of-function mutations are associated with inhibition of mTORC1 signaling. As mTORC1 signaling is known to regulate autophagy, we hypothesized that TBCK-encephalopathy patients with a neurodegenerative course have defects in autophagic-lysosomal dysfunction. METHODS: Children (n=8) of Puerto Rican (Boricua) descent affected with homozygous TBCK p...
December 28, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29245216/magnetic-resonance-imaging-of-the-spinal-cord-in-the-evaluation-of-3-patients-with-sensory-neuronopathies-diagnostic-assessment-indications-of-treatment-response-and-impact-of-autoimmunity-a-case-report
#6
Julius Birnbaum, Aliya Lalji, Ezequiel A Piccione, Izlem Izbudak
RATIONALE: Sensory neuronopathy can be a devastating peripheral nervous system disorder. Profound loss in joint position is associated with sensory ataxia, and reflects degeneration of large-sized dorsal root ganglia. Prompt recognition of sensory neuronopathies may constitute a therapeutic window to intervene before there are irreversible deficits. However, nerve-conduction studies may be unrevealing early in the disease course. In such cases, the appearance of dorsal column lesions on spinal-cord MRI can help in the diagnosis...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29200116/paraneoplastic-disorders
#7
Eric Lancaster
PURPOSE OF REVIEW: Paraneoplastic neurologic syndromes target specific areas of the nervous system with pathogenic autoantibodies or T-cell responses. Each syndrome conveys a risk of particular tumors. Expanded paraneoplastic antibody testing has led to improved diagnosis but created challenges involving appropriate interpretation of test results. RECENT FINDINGS: Peripheral nervous system paraneoplastic disorders such as myasthenia gravis and Lambert-Eaton myasthenic syndrome involve pathogenic autoantibodies...
December 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29117435/overview-of-neurotoxicology
#8
Lucio G Costa
The nervous system has a central and primary function in the body, and its relevance and complexity make it a target for a large number of toxic substances. The most common forms of neurotoxicity are the death of neurons (neuronopathy), the degeneration of axons (axonopathy), damage to glial cells (e.g., myelinopathy), and interference with the axonal membrane or neurotransmission. Important neurotoxicants are found among pesticides, metals, solvents, natural substances, and industrial chemicals. Environmental chemicals may also contribute to the etiopathogenesis of neurodevelopmental, neuropsychiatric, and neurodegenerative disorders...
November 8, 2017: Current Protocols in Toxicology
https://www.readbyqxmd.com/read/29107646/spastic-paraplegia-type-31-a-novel-reep1-splice-site-donor-variant-and-expansion-of-the-phenotype-variability
#9
Masaki Kamada, Toshitaka Kawarai, Ryosuke Miyamoto, Rie Kawakita, Yuki Tojima, Celeste Montecchiani, Laura D'Onofrio, Carlo Caltagirone, Antonio Orlacchio, Ryuji Kaji
Mutations in REEP1 have been identified in three types of neurological disorders, autosomal dominant form of Hereditary Spastic Paraplegia type 31 (SPG31), autosomal dominant distal hereditary motor neuronopathy type VB (HMN5B), and autosomal recessive form of congenital axonal neuropathy and diaphragmatic palsy. Previous studies demonstrated different molecular pathogenesis in SPG31, including loss-of-function, gain-of-function and haploinsufficiency. A four-generation family from Japan, including 12 members, was investigated clinically and genetically...
October 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29089158/cerebellar-ataxia-with-neuropathy-and-vestibular-areflexia-syndrome-canvas
#10
Masakatsu Taki, Takashi Nakamura, Hiraku Matsuura, Tatsuhisa Hasegawa, Hirofumi Sakaguchi, Kanako Morita, Ryotaro Ishii, Ikuko Mizuta, Takashi Kasai, Toshiki Mizuno, Shigeru Hirano
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a novel ataxic disorder consisting of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a somatosensory deficit. We report the first Japanese case of CANVAS. The patient is a 68-year-old Japanese male. He was referred to our university for further evaluation of progressive gait disturbance and ataxia. He exhibited horizontal gaze-evoked nystagmus and sensory deficit. Nerve conduction studies showed sensory neuronopathy...
October 28, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28968369/sensory-polyneuropathies
#11
Kelly Graham Gwathmey
PURPOSE OF REVIEW: This article describes the methods of diagnosis and management of the sensory-predominant polyneuropathies. To simplify the approach to this category of patients, sensory-predominant polyneuropathies are divided broadly into either small fiber (or pain-predominant) neuropathies and large fiber (or ataxia-predominant) neuropathies, of which the sensory neuronopathies (dorsal root ganglionopathies) are highlighted. RECENT FINDINGS: Physicians can now easily perform skin biopsies in their offices, allowing access to the gold standard pathologic diagnostic tool for small fiber neuropathies...
October 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28877553/a-novel-phenotype-of-zika-virus-related-neurological-disease-sensory-neuronopathy
#12
Alberto Rolim Muro Martinez, Marcela Câmara Machado Costa, Marco Antônio Caires Novaes, Humberto Castro Lima, Anamarli Nucci, Marcondes C França
No abstract text is available yet for this article.
September 6, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28856173/a-case-of-brown-vialetto-van-laere-syndrome-due-to-a-novel-mutation-in-slc52a3-gene-clinical-course-and-response-to-riboflavin
#13
Venkatraman Thulasi, Aravindhan Veerapandiyan, Beth A Pletcher, Chun M Tong, Xue Ming
Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC52A3 gene, who presented at the age of 2.5 years with progressive brain stem dysfunction including ptosis, facial weakness, hearing loss, dysphagia, anarthria with bilateral vocal cord paralysis, and ataxic gait...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/28844760/template-operated-mup-analysis-is-not-accurate-in-the-diagnosis-of-myopathic-or-neuropathic-changes-in-the-diaphragm
#14
Lea Leonardis, Simon Podnar
OBJECTIVES: The aim of this study was to evaluate the quantitative motor unit potential (MUP) analysis in the diagnosis of myopathy and neuropathy of the diaphragm. METHODS: Diaphragm template-operated quantitative EMG were performed in 30 patients with myotonic dystrophy type 1 (DM1), 17 with myotonic dystrophy type 2 (DM2) and 40 with amyotrophic lateral sclerosis (ALS). RESULTS: Low MUP amplitude precluded MUP analysis in 21% of DM1 patients...
August 24, 2017: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/28837658/dorsal-root-ganglia-hypertrophy-as-in-vivo-correlate-of-oxaliplatin-induced-polyneuropathy
#15
Leonidas Apostolidis, Daniel Schwarz, Annie Xia, Markus Weiler, Andreas Heckel, Tim Godel, Sabine Heiland, Heinz-Peter Schlemmer, Dirk Jäger, Martin Bendszus, Philipp Bäumer
PURPOSE: To investigate in vivo morphological and functional correlates of oxaliplatin-induced peripheral neuropathy (OXA-PNP) by magnetic resonance neurography (MRN). METHODS: Twenty patients (7 female, 13 male, 58.9±10.0 years) with mild to moderate OXA-PNP and 20 matched controls (8 female, 12 male, 55.7±15.6 years) were prospectively enrolled. All patients underwent a detailed neurophysiological examination prior to neuroimaging. A standardized imaging protocol at 3...
2017: PloS One
https://www.readbyqxmd.com/read/28836102/sensory-neuronopathies
#16
REVIEW
Allison Crowell, Kelly G Gwathmey
PURPOSE OF REVIEW: The sensory neuronopathies are sensory-predominant polyneuropathies that result from damage to the dorsal root and trigeminal sensory ganglia. This review explores the various causes of acquired sensory neuronopathies, the approach to diagnosis, and treatment. RECENT FINDINGS: Diagnostic criteria have recently been published and validated to allow differentiation of sensory neuronopathies from other polyneuropathies. On the basis of serial electrodiagnostic studies, the treatment window for the acquired sensory neuronopathies has been identified as approximately 8 months...
August 23, 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28827487/clinical-and-laboratory-profiles-of-idiopathic-small-fiber-neuropathy-in-children-case-series
#17
Jafar Kafaie, Ali Al Balushi, Minsoo Kim, Alan Pestronk
The role of autoimmune mechanisms in idiopathic small fiber neuropathy (SFN) is not completely understood. Serum IgM binding to trisulfated disaccharide IdoA2S-GlcNS-6S (TS-HDS) and IgG to fibroblast growth factor receptor 3 were associated with sensory motor polyneuropathies and sensory neuronopathy among others. In this retrospective case review, we describe the clinical and laboratory findings of idiopathic SFN in a small cohort of pediatric patients. Eight children were diagnosed with SFN clinically and confirmed by reduced epidermal nerve fiber density...
September 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28821927/control-of-wrist-movement-in-deafferented-man-evidence-for-a-mixed-strategy-of-position-and-amplitude-control
#18
R Chris Miall, P Haggard, J D Cole
There is a continuing debate about control of voluntary movement, with conflicted evidence about the balance between control of movement vectors (amplitude control) that implies knowledge of the starting position for accuracy, and equilibrium point or final position control, that is independent of the starting conditions. We tested wrist flexion and extension movements in a man with a chronic peripheral neuronopathy that deprived him of proprioceptive knowledge of his wrist angles. In a series of experiments, we demonstrate that he could scale the amplitude of his wrist movements in flexion/extension, even without visual feedback, and appeared to adopt a strategy of moving via a central wrist position when asked to reach target angles from unknown start locations...
November 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28761903/natalizumab-granule-cell-neuronopathy-fdg-pet-in-diagnosis-and-immune-reconstitution-with-g-csf
#19
Salwa Kamourieh, Kohilan Gananandan, Joel Raffel, Richard Nicholas
No abstract text is available yet for this article.
September 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28695670/mitochondrial-dysfunction-and-cerebral-metabolic-abnormalities-in-patients-with-mitochondrial-encephalomyopathy-subtypes-evidence-from-proton-mr-spectroscopy-and-muscle-biopsy
#20
Feng-Nan Niu, Hai-Lan Meng, Lei-Lei Chang, Hong-Yan Wu, Wei-Ping Li, Ren-Yuan Liu, Hui-Ting Wang, Bing Zhang, Yun Xu
AIMS: Accumulated evidence indicates that cerebral metabolic features, evaluated by proton magnetic resonance spectroscopy ((1) H-MRS), are sensitive to early mitochondrion dysfunction associated with mitochondrial encephalomyopathy (ME). The metabolite ratios of lactate (lac)/Cr, N-acetyl aspartate (NAA)/creatine (Cr), total choline (tCho)/Cr, and myoinositol (mI)/Cr are measured in the infarct-like lesions by (1) H-MRS and may reveal metabolic changes associated with ME. However, the application of this molecular imaging technique in the investigation of the pathology of ME subtypes is unknown...
August 2017: CNS Neuroscience & Therapeutics
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