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Axonal neuropathy

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https://www.readbyqxmd.com/read/28424304/giant-axonal-neuropathy-alters-the-structure-of-keratin-intermediate-filaments-in-human-hair
#1
Asfia Soomro, Richard J Alsop, Atsuko Negishi, Laurent Kreplak, Douglas Fudge, Edward R Kuczmarski, Robert D Goldman, Maikel C Rheinstädter
Giant axonal neuropathy (GAN) follows an autosomal recessive genetic inheritance and impedes the peripheral and central nervous system due to axonal swellings that are packed with neurofilaments. The patients display a number of phenotypes, including hypotonia, muscle weakness, decreased reflexes, ataxia, seizures, intellectual disability, pale skin and often curled hair. We used X-ray diffraction and tensile testing to determine potential changes to the structure of keratin intermediate filaments (IFs) in the hair of patients with GAN...
April 2017: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/28423567/cxcr1-2-pathways-in-paclitaxel-induced-neuropathic-pain
#2
Brandolini Laura, Benedetti Elisabetta, Ruffini Pier Adelchi, Russo Roberto, Cristiano Loredana, Antonosante Andrea, d'Angelo Michele, Castelli Vanessa, Giordano Antonio, Allegretti Marcello, Cimini Annamaria
Chemotherapy-induced peripheral neuropathy (CIPN) is a type of neuropathic pain that represents a frequent and serious consequence of chemotherapy agents. Over the last years, significant progress has been achieved in elucidating the underlying pathogenesis of CIPN. The interference of taxanes with microtubule has been proposed as a mechanism that leads to altered axonal transport and to permanent neurological damages. The inflammatory process activated by chemotherapeutic agents has been considered as a potential trigger of nociceptive process in CIPN...
April 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28414270/human-biallelic-mfn2-mutations-induce-mitochondrial-dysfunction-upper-body-adipose-hyperplasia-and-suppression-of-leptin-expression
#3
Nuno M Rocha, David A Bulger, Andrea Frontini, Hannah Titheradge, Sigrid Bjerge Gribsholt, Rachel Knox, Matthew Page, Julie Harris, Felicity Payne, Claire Adams, Alison Sleigh, John Crawford, Anette Prior Gjesing, Jette Bork-Jensen, Oluf Pedersen, Inês Barroso, Torben Hansen, Helen Cox, Mary Reilly, Alex Rossor, Rebecca J Brown, Simeon I Taylor, Duncan McHale, Martin Armstrong, Elif A Oral, Vladimir Saudek, Stephen I O'Rahilly, Eamonn R Maher, Bjørn Richelsen, David B Savage, Robert K Semple
MFN2 encodes mitofusin 2, a membrane-bound mediator of mitochondrial membrane fusion and inter-organelle communication. MFN2 mutations cause axonal neuropathy, with associated lipodystrophy only occasionally noted, however homozygosity for the p.Arg707Trp mutation was recently associated with upper body adipose overgrowth. We describe similar massive adipose overgrowth with suppressed leptin expression in four further patients with biallelic MFN2 mutations and at least one p.Arg707Trp allele. Overgrown tissue was composed of normal-sized, UCP1-negative unilocular adipocytes, with mitochondrial network fragmentation, disorganised cristae, and increased autophagosomes...
April 17, 2017: ELife
https://www.readbyqxmd.com/read/28399101/-clinical-and-epidemiological-characteristics-of-hereditary-motor-sensory-neuropathy-1x-caused-by-the-mutation-c-259c-g-p-p87a-in-the-gjb1-gene-of-patients-from-the-republic-of-bashkortostan
#4
E V Saifullina, R V Magzhanov, I M Khidiyatova, E K Khusnutdinova
BACKGROUND: Hereditary motor-sensory neuropathy 1X (НМСН 1X) is the second frequent form of hereditary motor-sensory neuropathies caused by mutations in the GJB1 gene (gap junction B1 type). The authors have established earlier that the с.259C>G (р.P87A) mutation is the most frequent cause of НМСН 1Х (92%) in patients from the Republic of Bashkortostan. AIM: To study in details the territorial ethnic distribution and clinical manifestations of the с...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28397393/early-discrimination-of-sensorimotor-guillain-barr%C3%A3-syndrome-into-demyelinating-or-axonal-subtype-by-automated-nerve-excitability-testing
#5
So Young Pyun, Mi-Ri Kang, Joo Young Lee, Kim Jong Kuk, Seong-Il Oh, Jong Seok Bae
In the early stage of disease, differentiating acute inflammatory demyelinating polyneuropathy (AIDP) and acute motor sensory axonal neuropathy (AMSAN) using only a conventional nerve conduction studies (NCS) may be difficult. We evaluated the differences in the motor axonal excitability properties of 16 cases of sensorimotor Guillain-Barré syndrome by nerve excitability testing (NET). The antiganglioside antibody assay and follow-up NCS resulted in 12 patients diagnosed as AIDP and 4 patients as AMSAN. Clinical and excitability parameters in each group were compared with those in 30 normal controls...
April 11, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28397326/diagnosis-and-management-of-neuropathies-associated-with-plasma-cell-dyscrasias
#6
REVIEW
Evan Rosenbaum, Douglas Marks, Shahzad Raza
Neuropathies associated with plasma cell dyscrasias are a major cause of morbidity for patients managed by medical oncologists. Because of similarities in clinical presentation and on nerve conduction studies, identifying the underlying disease leading to a paraproteinemic neuropathy can often be difficult. In addition, the degree of neurologic deficit does not strictly correlate with the extent of abnormalities on common clinical laboratory testing. Fortunately, with increasing understanding into the biologic mechanisms of underlying hematologic diseases, additional biomarkers have recently been developed, thus improving our diagnostic capacity...
April 10, 2017: Hematological Oncology
https://www.readbyqxmd.com/read/28395083/pathological-confirmation-of-optic-neuropathy-in-familial-dysautonomia
#7
Carlos E Mendoza-Santiesteban, Jose-Alberto Palma, Thomas R Hedges, Nora V Laver, Nada Farhat, Lucy Norcliffe-Kaufmann, Horacio Kaufmann
Clinical data suggest that optic neuropathy and retinal ganglion cell loss are the main cause of visual decline in patients with familial dysautonomia, but this has not previously been confirmed by pathological analyses. We studied retinas and optic nerves in 6 eyes from 3 affected patients obtained at autopsy. Analyses included routine neurohistology and immunohistochemistry for neurofilaments, cytochrome c oxidase (COX), and melanopsin-containing ganglion cells. We observed profound axon loss in the temporal portions of optic nerves with relative preservation in the nasal portions; this correlated with clinical and optical coherence tomography findings in 1 patient...
March 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28391556/microtubule-targeting-agents-eribulin-and-paclitaxel-differentially-affect-neuronal-cell-bodies-in-chemotherapy-induced-peripheral-neuropathy
#8
Sarah J Benbow, Krystyna M Wozniak, Bridget Kulesh, April Savage, Barbara S Slusher, Bruce A Littlefield, Mary Ann Jordan, Leslie Wilson, Stuart C Feinstein
Chemotherapy-induced peripheral neuropathy (CIPN) is a common side effect of anticancer treatment with microtubule-targeted agents (MTAs). The frequency of severe CIPN, which can be dose limiting and even life threatening, varies widely among different MTAs. For example, paclitaxel induces a higher frequency of severe CIPN than does eribulin. Different MTAs also possess distinct mechanisms of microtubule-targeted action. Recently, we demonstrated that paclitaxel and eribulin differentially affect sciatic nerve axons, with paclitaxel inducing more pronounced neurodegenerative effects and eribulin inducing greater microtubule stabilizing biochemical effects...
April 8, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28389474/perineurial-glial-plasticity-and-the-role-of-tgf-%C3%AE-in-the-development-of-the-blood-nerve-barrier
#9
Angela D Morris, Gwendolyn M Lewis, Sarah Kucenas
Precisely orchestrated interactions between spinal motor axons and their ensheathing glia are vital for forming and maintaining functional spinal motor nerves. Following perturbations to peripheral myelinating glial cells, centrally-derived oligodendrocyte progenitor cells (OPCs) ectopically exit the spinal cord and myelinate peripheral nerves in myelin with central nervous system (CNS) characteristics. However, whether remaining peripheral ensheathing glia, such as perineurial glia, properly encase the motor nerve despite this change in glial cell and myelin composition, remains unknown...
April 7, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28382108/two-years-long-term-follow-up-in-chronic-inflammatory-demyelinating-polyradiculoneuropathy-efficacy-of-intravenous-immunoglobulin-treatment
#10
Gisa Ellrichmann, Ralf Gold, Ilya Ayzenberg, Min-Suk Yoon, Christiane Schneider-Gold
BACKGROUND: Administration of intravenous immunoglobulins (IVIgs) is established for long-term treatment of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Prevention of secondary axonal loss going along with permanent clinical disability and muscular atrophy is a major aim in CIDP therapy. To assess long-term clinical efficacy of IVIg treatment despite heterogenous disease course and variable complaints reported by the patients, long-term electrophysiological monitoring was performed for systematic evaluation of therapeutic efficacy of IVIg...
February 2017: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/28380320/reappraisal-of-the-f-m-amplitude-ratio-in-carpal-tunnel-syndrome
#11
F Ginanneschi, M Mondelli, A Aretini, Alessandro Rossi
The F-wave/M-wave amplitude (F/M-amp) ratio has been shown to be increased in peripheral neuropathies, provided the maximum M-wave is relatively preserved. Reduced M-wave amplitudes and central facilitation of antidromically-induced reactivation of the anterior horn cells' axon hillocks (F-wave) are believed to contribute to higher F/M-amp ratios. The present study was undertaken to re-evaluate mechanisms responsible for higher F/M-amp ratios in carpal tunnel syndrome (CTS). We enrolled 232 cases affected by CTS and 108 controls...
January 2017: Functional Neurology
https://www.readbyqxmd.com/read/28375940/electrophysiological-studies-to-detect-peripheral-neuropathy-in-children-treated-with-vincristine
#12
Marko Kavcic, Blaz Koritnik, Matevz Krzan, Orjana Velikonja, Tomaz Prelog, Milica Stefanovic, Maruša Debeljak, Janez Jazbec
Patients treated with vincristine predictably develop peripheral neuropathy. The aim of our study was to investigate the pattern of vincristine-induced neuropathy in children by nerve conduction studies and somatosensory-evoked potentials (SSEPs). We included data from 39 children who received vincristine for various pediatric malignancies, and we performed initial and follow-up (after a minimum of 4 doses of vincristine 1.5 mg/m) conduction studies in 27 patients and SSEPs studies in 34 patients. On follow-up the most prevalent symptoms were paresthesias (44%) and constipation (22%), and the most common neurological sign was impaired myotatic reflexes (89%)...
April 3, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28370195/axonal-domain-disorganization-in-caspr1-and-caspr2-mutant-myelinated-axons-affects-neuromuscular-junction-integrity-leading-to-muscle-atrophy
#13
Julia Saifetiarova, Xi Liu, Anna M Taylor, Jie Li, Manzoor A Bhat
Bidirectional interactions between neurons and myelinating glial cells result in formation of axonal domains along myelinated fibers. Loss of axonal domains leads to detrimental consequences on nerve structure and function, resulting in reduced conductive properties and the diminished ability to reliably transmit signals to the targets they innervate. Thus, impairment of peripheral myelinated axons that project to the surface of muscle fibers and form neuromuscular junction (NMJ) synapses leads to muscle dysfunction...
April 3, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/28364294/intermediate-charcot-marie-tooth-disease-an-electrophysiological-reappraisal-and-systematic-review
#14
REVIEW
José Berciano, Antonio García, Elena Gallardo, Kristien Peeters, Ana L Pelayo-Negro, Silvia Álvarez-Paradelo, José Gazulla, Miriam Martínez-Tames, Jon Infante, Albena Jordanova
Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy with great variety of phenotypes, inheritance patterns, and causative genes. According to median motor nerve conduction velocity (MNCV), CMT is divided into demyelinating (CMT1) with MNCV below 38 m/s, axonal (CMT2) with MNCV above 38 m/s, and intermediate CMT with MNCV between 25 and 45 m/s. In each category, transmission may be autosomal dominant, autosomal recessive, or X-linked. The nosology of intermediate CMT is controversial because of concerns about electrophysiological delimitation...
March 31, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28357183/tuberculosis-and-guillain-barre-syndrome-a-chance-association
#15
Srikant Mohta, Manish Soneja, Surabhi Vyas, Wasim Khot
An 18-year-old boy presented with acute-onset quadriparesis that had developed 4 weeks prior. He had an intermittent fever and significant weight loss during this period. After extensive investigations, the patient was diagnosed with an acute motor and sensory axonal neuropathy (AMSAN) variant of Guillain-Barre syndrome (GBS) and disseminated tuberculosis with mediastinal lymphadenopathy, pericarditis, and pleural effusion. Plasmapheresis was performed and first-line anti-tubercular therapy was administered...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28355569/severity-of-demyelinating-and-axonal-neuropathy-mouse-models-is-modified-by-genes-affecting-structure-and-function-of-peripheral-nodes
#16
Kathryn H Morelli, Kevin L Seburn, David G Schroeder, Emily L Spaulding, Loiuse A Dionne, Gregory A Cox, Robert W Burgess
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited polyneuropathies. Mutations in 80 genetic loci can cause forms of CMT, resulting in demyelination and axonal dysfunction. The clinical presentation, including sensory deficits, distal muscle weakness, and atrophy, can vary greatly in severity and progression. Here, we used mouse models of CMT to demonstrate genetic interactions that result in a more severe neuropathy phenotype. The cell adhesion molecule Nrcam and the Na(+) channel Scn8a (NaV1...
March 28, 2017: Cell Reports
https://www.readbyqxmd.com/read/28348263/pure-motor-axonal-neuropathy-triggered-by-antituberculous-therapy-in-an-undiagnosed-case-of-acute-intermittent-porphyria
#17
Masood Uz Zaman Babar, Haris Hakeem, Sara Khan
A man aged 22 years misdiagnosed as suffering from recurrent abdominal tuberculosis, in view of recurrent abdominal pain was treated for abdominal tuberculosis in the past. The patient was prescribed antituberculous therapy. 2 months after starting treatment, he developed progressive weakness of all 4 limbs. Electrodiagnostic examination revealed an acute severe motor axonal neuropathy. Further workup revealed elevated porphyrin precursors in urine.
March 27, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28347615/the-p-thr11met-mutation-in-c19orf12-is-frequent-among-adult-turkish-patients-with-mpan
#18
Simone Olgiati, Okan Doğu, Zeynep Tufekcioglu, Yunus Diler, Esen Saka, Murat Gultekin, Hakan Kaleagasi, Demy Kuipers, Josja Graafland, Guido J Breedveld, Marialuisa Quadri, Reyhan Sürmeli, Gülin Sünter, Tuğrul Doğan, Ayşe Destina Yalçın, Başar Bilgiç, Bülent Elibol, Murat Emre, Hasmet A Hanagasi, Vincenzo Bonifati
INTRODUCTION: Mutations in the C19orf12 gene cause mitochondrial membrane protein associated neurodegeneration (MPAN), an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA). A limited number of patients with C19orf12 mutations, particularly those with adult onset of symptoms, have been reported. METHODS: We sequenced the entire coding region of C19orf12 in 15 Turkish adult probands with idiopathic NBIA. We also performed haplotype analysis in families with a recurrent C19orf12 mutation...
March 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28336415/sncam-as-a-specific-marker-of-peripheral-demyelination
#19
Adam Niezgoda, Sławomir Michalak, Jacek Losy, Alicja Kalinowska-Łyszczarz, Wojciech Kozubski
Adhesion molecules are involved in nerve growth, synaptic plasticity and myelin formation and maintenance process. Neural cell adhesion molecule (CD56 or NCAM) seems to play a crucial role in all the above-mentioned events. Having found poly-sialylated NCAM increased re-expression on demyelinated axons within multiple sclerosis plaques we assessed soluble NCAM (sNCAM) in sera of patients with various types of peripheral nerve affections - demyelinating, axonal "inflammatory", axonal metabolic polyneuropathies and healthy controls...
March 21, 2017: Immunology Letters
https://www.readbyqxmd.com/read/28335037/lrsam1-mediated-ubiquitylation-is-disrupted-in-axonal-charcot-marie-tooth-disease-2p
#20
Johanna E Hakonen, Vincenzo Sorrentino, Rossella Avagliano Trezza, Marit B de Wissel, Marlene van den Berg, Boris Bleijlevens, Fred van Ruissen, Ben Distel, Frank Baas, Noam Zelcer, Marian A J Weterman
Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift mutation in the RING domain of LRSAM1 (c.2121_2122dup, p.Leu708Argfs) that encodes an E3 ubiquitin ligase, as the cause of axonal type CMT (CMT2P). However, the frequency of LRSAM1 mutations in CMT2 and the functional basis for their association with disease remains unknown. In this study we evaluated LRSAM1 mutations in two large Dutch cohorts...
March 15, 2017: Human Molecular Genetics
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