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Axonal neuropathy

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https://www.readbyqxmd.com/read/29341354/a-mutation-in-the-heptad-repeat-2-domain-of-mfn2-in-a-large-cmt2a-family
#1
Lois Dankwa, Jessica Richardson, William W Motley, Stephan Züchner, Steven S Scherer
Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2", and late-onset axonal neuropathies. We report a large family with an axonal polyneuropathy, with clinical onset in the 20s, followed by slow progression.
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
#2
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/29337417/guillain-barr%C3%A3-syndrome-in-a-local-area-in-japan-2006-2015-an-epidemiological-and-clinical-study-of-108-patients
#3
Naoko Matsui, Hiroyuki Nodera, Daisuke Kuzume, Naoki Iwasa, Yuki Unai, Waka Sakai, Yoshimichi Miyazaki, Hiroki Yamazaki, Yusuke Osaki, Takahiro Furukawa, Masahiro Yamasaki, Yuishin Izumi, Susumu Kusunoki, Kokichi Arisawa, Ryuji Kaji
BACKGROUND: Many epidemiological studies of Guillain-Barré syndrome (GBS) and Fisher syndrome (FS) have been conducted in Europe and America. In contrast, epidemiological studies are rare in Asia where the GBS subtypes differ from those in Western countries. This study was undertaken to clarify the incidence of GBS and FS in a local area in Japan as well as their seasonal trends. METHODS: Seventy-one GBS and 37 FS patients were recorded from 2006 to 2015 in an area of approximately 1...
January 16, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29326294/guillain-barr%C3%A3-syndrome-in-southern-china-retrospective-analysis-of-hospitalised-patients-from-14-provinces-in-the-area-south-of-the-huaihe-river
#4
Shuping Liu, Zheman Xiao, Min Lou, Fang Ji, Bei Shao, Hongyuan Dai, Can Luo, Bo Hu, Ruiling Zhou, Zhangyu Zou, Jing Li, Xiaoyi Li, Jun Xu, Fan Hu, Chao Qin, Lian Wang, Tao Liu, Runtao Bai, Yangmei Chen, Haiyan Lv, Ruxu Zhang, Xiaoming Wang, Yunfu Wang, Shanling Ren, Xiaoming He, Zhenwei Jiang, Huiwen Wu, Donghui Yu, Wenqiong Yang, Wenjing Luo, Daokai Gong, Bin Chen, Yin Liu, Jiajia Yao, Yujie Yang, Jingxia Guan, Mingzhen Zhu, Xiujuan Fu, Genshan Gao, Hong Zhang, Man Ding, Shanghua Fan, Qian Cao, Jingyi Lu, Zuneng Lu
OBJECTIVES: The clinical and epidemiological profiles of Guillain-Barré syndrome (GBS) in southern China have yet to be fully recognised. We aimed to investigate the subtypes of GBS in southern China, compare the clinical features of demyelinating form with that of axonal form and test whether preceding infections and age have influence on the clinical phenotype, disease course and severity of GBS. METHODS: Medical records of patients with a diagnosis of GBS admitted to 31 tertiary hospitals, located in 14 provinces in southern China, from 1 January 2013 to 30 September 2016, were collected and retrospectively reviewed...
January 11, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29323613/idrugs-and-idevices-discovery-research-preclinical-assays-techniques-and-animal-model-studies-for-ocular-hypotensives-and-neuroprotectants
#5
Najam A Sharif
Discovery ophthalmic research is centered around delineating the molecular and cellular basis of ocular diseases and finding and exploiting molecular and genetic pathways associated with them. From such studies it is possible to determine suitable intervention points to address the disease process and hopefully to discover therapeutics to treat them. An investigational new drug (IND) filing for a new small-molecule drug, peptide, antibody, genetic treatment, or a device with global health authorities requires a number of preclinical studies to provide necessary safety and efficacy data...
January 11, 2018: Journal of Ocular Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/29321234/plasma-neurofilament-light-chain-concentration-in-the-inherited-peripheral-neuropathies
#6
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/29320503/pattern-of-peripapillary-capillary-density-loss-in-ischemic-optic-neuropathy-compared-to-that-in-primary-open-angle-glaucoma
#7
Masoud Aghsaei Fard, Yanin Suwan, Sasan Moghimi, Lawrence S Geyman, Toco Y Chui, Richard B Rosen, Robert Ritch
PURPOSE: Both non-arteritic anterior ischemic optic neuropathy (NAION) and primary open-angle glaucoma (POAG) damage retinal ganglion cell axons, which are perfused by the radial peripapillary capillaries. To evaluate the pattern of ischemia, we compared peripapillary capillary density (PCD) in NAION eyes to POAG eyes matched for visual field mean deviation and retinal nerve fiber layer thickness. METHODS: 31 chronic NAION (>6 months after the acute event) and unaffected fellow eyes (31 subjects), 42 moderate and severe POAG eyes (27 subjects), and 77 control eyes (46 healthy subjects) were imaged with a commercial optical coherence tomography angiography system (AngioVue, Avanti RTVue-XR, Optovue, CA) at two academic institutions...
2018: PloS One
https://www.readbyqxmd.com/read/29318796/recurrent-guillain-barr%C3%A3-syndrome-following-urinary-tract-infection-by-escherichia-coli
#8
Yoon Sik Jo, Jin Yong Choi, Hong Chung, Yuseok Kim, Sang Jun Na
Recurrent Guillain-Barré syndrome (GBS) is a rare, immune-mediated disease of the peripheral nervous system. It has been reported to occur at intervals ranging from four months to 10 years; published case studies suggest that 1%-6% of patients who have had GBS will experience recurrent attacks. The most commonly identified infections coinciding with GBS are Campylobacter jejuni, Haemophilus influenzae, Mycoplasma pneumonia, and cytomegalovirus, while an antecedent infection with Escherichia coli is very uncommon...
January 22, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29316033/peripheral-nerves-are-pathologically-small-in-cerebellar-ataxia-neuropathy-vestibular-areflexia-syndrome-canvas-a-controlled-ultrasound-study
#9
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/29315669/guillain-barr%C3%A3-syndrome-subtype-diagnosis-a-prospective-multicentric-european-study
#10
Peter Y K Van den Bergh, Françoise Piéret, John L Woodard, Shahram Attarian, Aude-Marie Grapperon, Guillaume Nicolas, Marion Brisset, Julien Cassereau, Yusuf A Rajabally, Vinciane Van Parijs, Donatienne Verougstraete, Philippe Jacquerye, Jean-Marc Raymackers, Céline Redant, Claure Michel, Emilien Delmont
INTRODUCTION: There is uncertainty as to whether the Guillain-Barré syndrome (GBS) subtypes, acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and acute motor axonal neuropathy (AMAN), can be diagnosed electrophysiologically. METHODS: We prospectively included 58 GBS patients. Electrophysiology was performed at means of 5 and 33 days after disease onset. Two traditional and one recent criteria sets were used to classify studies as demyelinating or axonal...
January 5, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29313588/paraneoplastic-inverse-myasthenic-syndrome-as-a-presentation-of-bronchogenic-carcinoma
#11
G S Chowdhary, Malav Jhala
Tumours may produce growth factors and cytokines responsible for signs and symptoms distant to the primary or metastatic site. This may be the first sign of a malignancy and its recognition may be critical for early cancer detection. Moreover, proper diagnosis spares the patient of extensive and expensive search for an alternate cause of the neurological dysfunction. In neurological paraneoplastic syndromes like Lambert Eaton Myasthenic syndrome associated with small cell lung cancer, evidence of autoimmunity against presynaptic neuro-muscular junction by anti voltage gated calcium channel anti bodies is well documented...
September 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29306589/oxidative-stress-dependent-mmp-13-activity-underlies-glucose-neurotoxicity
#12
Ashley L Waldron, Patricia A Schroder, Kelly L Bourgon, Jessie K Bolduc, James L Miller, Adriana D Pellegrini, Amanda L Dubois, Magdalena Blaszkiewicz, Kristy L Townsend, Sandra Rieger
BACKGROUND: A complication of diabetes is neuropathy, a condition of sensory axon degeneration that originates in the epidermis. The mechanisms remain unknown but reactive oxygen species (ROS) have been implicated in this condition. In this study, we assessed the role of ROS and a candidate downstream target, MMP-13 in glucose-induced sensory axon degeneration in zebrafish and mice. METHODS: The effects of glucose on metabolism and sensory axon degeneration were assessed using qPCR and live imaging...
December 6, 2017: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/29298279/severe-chronic-lithium-intoxication-in-patient-treated-for-bipolar-disorder
#13
Ivana Stetkarova, Vaclav Bocek, Alsu Gismatullina, Zuzana Svobodova, Tomas Peisker
OBJECTIVE: Lithium has been long used in psychiatry as an adjuvant treatment for bipolar disorder. Chronic lithium intoxication is very rare. DESIGN: We present the case of a 72-year-old female, treated with lithium for more than 10 years for bipolar disorder, who was admitted for gait impairment with weakness of limbs, myoclonus, speech impairment and memory disturbances. RESULTS: Diagnosis of lithium intoxication was based on clinical picture and determination of serum lithium levels...
December 4, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29291205/topiramate-induced-peripheral-neuropathy-a-case-report-and-review-of-literature
#14
Sherifa Ahmed Hamed
Drug-induced peripheral neuropathy had been rarely reported as an adverse effect of some antiepileptic drugs (AEDs) at high cumulative doses or even within the therapeutic drug doses or levels. We describe clinical and diagnostic features of a patient with peripheral neuropathy as an adverse effect of chronic topiramate (TPM) therapy. A 37-year-old woman was presented for the control of active epilepsy (2010). She was resistant to some AEDs as mono- or combined therapies (carbamazepine, sodium valproate, levetiracetam, oxcarbazepine and lamotrigine)...
December 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/29290065/pathophysiology-of-primary-open-angle-glaucoma-from-a-neuroinflammatory-and-neurotoxicity-perspective-a-review-of-the-literature
#15
REVIEW
Karine Evangelho, Maria Mogilevskaya, Monica Losada-Barragan, Jeinny Karina Vargas-Sanchez
PURPOSE: Glaucoma is the leading cause of blindness in humans, affecting 2% of the population. This disorder can be classified into various types including primary, secondary, glaucoma with angle closure and with open angle. The prevalence of distinct types of glaucoma differs for each particular region of the world. One of the most common types of this disease is primary open-angle glaucoma (POAG), which is a complex inherited disorder characterized by progressive retinal ganglion cell death, optic nerve head excavation and visual field loss...
December 30, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/29279815/correlation-of-histopathology-and-clinical-symptoms-in-meralgia-paresthetica
#16
Russell A Payne, Kimberly Harbaugh, Charles S Specht, Elias Rizk
Meralgia paresthetica is a neuropathic pain disorder resulting from an entrapment neuropathy of the lateral femoral cutaneous nerve. This condition results in pain, paresthesias and numbness over the anterolateral aspect of the thigh. We present a case of meralgia paresthetica and discuss both the clinical and histopathological findings as they relate to one another. We report a case of meralgia paresthetica refractory to conservative treatment who underwent neurectomy with successful treatment of symptoms...
October 20, 2017: Curēus
https://www.readbyqxmd.com/read/29278894/asymmetric-ataxia-depression-memory-loss-epilepsy-and-axonal-neuropathy-associated-with-a-heterozygous-dna-polymerase-gamma-variant-of-uncertain-significance-c1370g-a-r457q
#17
Nivedita U Jerath, Michael E Shy
INTRODUCTION: Mutations in the gene encoding DNA polymerase gamma (POLG) impair its ability to proofread mitochondrial DNA (mtDNA) during replication [1]. This results in a high frequency of randomly distributed mtDNA mutations and thus a wide range of phenotypes, including seizures, neuropathy, and cerebellar ataxia [1, 2]. We document a phenotype associated with the rare POLG variant c.1370G>A (p.R457Q). METHODS: Over 10 years, we performed electrodiagnostic and neuropsychologic on a patient who presented with a variety of neurologic symptoms...
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29277257/early-onset-axonal-charcot-marie-tooth-disease-due-to-sacs-mutation
#18
Paulo Victor Sgobbi Souza, Thiago Bortholin, Fernando George Monteiro Naylor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
Axonal Charcot-Marie-Tooth disease (CMT) represents an expanding group of inherited motor and sensory neuropathies in clinical practice. SACS-gene related disorders have been associated with complex neurological phenotypes of early-onset cerebellar ataxia, spastic-ataxia, spastic paraplegia, demyelinating neuropathy and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure axonal neuropathy phenotypes. Two unrelated Brazilian men with early-onset axonal CMT-like presentations associated with SACS gene mutations are presented...
November 24, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29273401/effect-of-streptozotocin-induced-diabetes-on-motor-representations-in-the-motor-cortex-and-corticospinal-tract-in-rats
#19
Ken Muramatsu, Masako Ikutomo, Toru Tamaki, Satoshi Shimo, Masatoshi Niwa
Motor disorders in patients with diabetes are associated with diabetic peripheral neuropathy, which can lead to symptoms such as lower extremity weakness. However, it is unclear whether central motor system disorders can disrupt motor function in patients with diabetes. In a streptozotocin-induced rat model of type 1 diabetes, we used intracortical microstimulation to evaluate motor representations in the motor cortex, recorded antidromic motor cortex responses to spinal cord stimulation to evaluate the function of corticospinal tract (CST) axons, and used retrograde labeling to evaluate morphological alterations of CST neurons...
December 19, 2017: Brain Research
https://www.readbyqxmd.com/read/29261664/prion-protein-inhibits-fast-axonal-transport-through-a-mechanism-involving-casein-kinase-2
#20
Emiliano Zamponi, Fiamma Buratti, Gabriel Cataldi, Hector Hugo Caicedo, Yuyu Song, Lisa M Jungbauer, Mary J LaDu, Mariano Bisbal, Alfredo Lorenzo, Jiyan Ma, Pablo R Helguera, Gerardo A Morfini, Scott T Brady, Gustavo F Pigino
Prion diseases include a number of progressive neuropathies involving conformational changes in cellular prion protein (PrPc) that may be fatal sporadic, familial or infectious. Pathological evidence indicated that neurons affected in prion diseases follow a dying-back pattern of degeneration. However, specific cellular processes affected by PrPc that explain such a pattern have not yet been identified. Results from cell biological and pharmacological experiments in isolated squid axoplasm and primary cultured neurons reveal inhibition of fast axonal transport (FAT) as a novel toxic effect elicited by PrPc...
2017: PloS One
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