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https://www.readbyqxmd.com/read/27933465/nano-mechanical-characterization-of-ataxia-telangiectasia-cells-treated-with-dexamethasone
#1
Michele Menotta, Sara Biagiotti, Giulia Bartolini, Bianchi Marzia, Sara Orazi, Aldo Germani, Luciana Chessa, Mauro Magnani
Ataxia telangiectasia is a rare genetic disease and no therapy is currently available. Glucocorticoid analogues have been shown to improve the neurological symptoms of treated patients. In the present study ataxia telangiectasia and wild type cells were used as a cellular model and treated with dexamethasone. The cells were subsequently investigated for membrane and whole cell mechanical properties by atomic force microscopy. In addition, cytoskeleton protein dynamics and nuclear shapes were assayed by fluorescence microscopy, while western blots were used to assess actin and tubulin content...
December 8, 2016: Cell Biochemistry and Biophysics
https://www.readbyqxmd.com/read/27932510/embolization-of-intracranial-dural-arteriovenous-fistulas-using-phil-liquid-embolic-agent-in-26-patients-a-multicenter-study
#2
S Lamin, H S Chew, S Chavda, A Thomas, M Piano, L Quilici, G Pero, M Holtmannspolter, M E Cronqvist, A Casasco, L Guimaraens, L Paul, A Gil Garcia, A Aleu, R Chapot
BACKGROUND AND PURPOSE: The introduction of liquid embolic agents has revolutionized endovascular approach to cranial vascular malformations. The aim of the study was to retrospectively assess the efficacy and safety of Precipitating Hydrophobic Injectable Liquid (PHIL), a new nonadhesive liquid embolic agent, in the treatment of patients with cranial dural arteriovenous fistulas. The primary end point was the rate of complete occlusion of dural arteriovenous fistulas. Secondary end points included the incidence of adverse events and clinical status at 3-month follow-up...
December 8, 2016: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/27930723/fourteen-years-of-experience-of-liver-transplantation-for-wilson-s-disease-a-report-on-107-cases-from-shiraz-iran
#3
Kamran B Lankarani, Seyed Ali Malek-Hosseini, Saman Nikeghbalian, Mohsen Dehghani, Mohammad Pourhashemi, Kourosh Kazemi, Parisa Janghorban, Maryam Akbari, Sulmaz Ghahramani, Bijan Eghtesad, Maryam Moini, Abbas Rahmi Jaberi, Alireza Shamsaifar, Siavosh Gholami, Fatemeh Rahmanian, Bita Geramizadeh
BACKGROUND AND AIM: Liver transplantation is a potential cure for liver damage from Wilson's disease but the course of neuropsychiatric manifestations after transplantation remains undetermined. MATERIAL AND METHODS: In this study, data on all patients who'd received a liver transplant for Wilson's disease at the Shiraz Organ Transplantation Center between December 2000 and March 2014 were reviewed and compared to data on a control group who'd received a liver transplant over the same period but due to other causes...
2016: PloS One
https://www.readbyqxmd.com/read/27929719/nad-the-convergence-of-dna-repair-and-mitophagy
#4
Evandro F Fang, Vilhelm A Bohr
ATM is a 350 kDa serine/threonine kinase best known for its role in DNA repair and multiple cellular homeostasis pathways. Mutation in ATM causes the disease ataxia telangiectasia (A-T) with clinical features including ataxia, severe cerebellar atrophy and Purkinje cell loss. In a cross-species study, using primary rat neurons, the roundworm C. elegans, and a mouse model of A-T, we showed that loss of ATM induces mitochondrial dysfunction and compromised mitophagy due to NAD(+) insufficiency. Remarkably, NAD(+) repletion mitigates both the DNA repair defect and mitochondrial dysfunction in ATM-deficient neurons...
December 8, 2016: Autophagy
https://www.readbyqxmd.com/read/27928778/previously-unreported-biallelic-mutation-in-dnajc19-are-sensorineural-hearing-loss-and-basal-ganglia-lesions-additional-features-of-dilated-cardiomyopathy-and-ataxia-dcma-syndrome
#5
Sema Kalkan Ucar, Johannes A Mayr, René G Feichtinger, Ebru Canda, Mahmut Çoker, Saskia B Wortmann
BACKGROUND: Dilated cardiomyopathy (DCM), non-progressive cerebellar ataxia (A), testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria are the hallmarks of DNAJC19 defect (or DCMA syndrome) due to biallelic mutations in DNAJC19. To date DCMA syndrome has been reported in 19 patients from Canada and in two Finnish siblings. The underlying pathomechanism is unknown; however, DNAJC19 is presumed to be involved in mitochondrial membrane related processes (e.g., protein import and cardiolipin remodeling)...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27928406/late-presentation-of-ataxia-areflexia-and-electrophysiological-abnormalities-as-part-of-miller-fisher-syndrome-case-report
#6
Deniz Somer, Arzu Yilmaz, Serap Tiras Teber, Fatma Gul Cinar
Miller Fisher syndrome (MFS) is characterised by the triad of ophthalmoplegia, ataxia, and areflexia. A case with external ophthalmoplegia and absence of ataxia and areflexia until the end of second week is presented. Electrophysiological findings became apparent after the third week and showed reduced amplitudes of sensory nerve action potentials and prolonged latencies of F with no evidence of conduction blocks. There was no response to intravenous immunoglobulin, but there was response to corticosteroids...
August 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27928389/oculomotor-nerve-palsy-presented-with-isolated-unilateral-ptosis-and-minimal-upgaze-palsy
#7
Canan Togay Işıkay, Busra S Polat
This case with unilateral complete blepharoptosis and slight limitation of upgaze as ocular findings due to midbrain infarction represents an unusual form of intra-axial oculomotor nerve involvement. A 65-year-old man was admitted with acute unilateral ptosis of the left eyelid and gait ataxia. He had chronic hypertension in the medical history. The neurologic examination revealed that he had a complete ptosis of the left eyelid, slight limitation of elevation in the left eye, bilateral dysmetria, and gait ataxia...
April 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27928380/facial-dystonia-with-facial-grimacing-and-vertical-gaze-palsy-with-round-the-houses-sign-in-a-29-year-old-woman
#8
J Crespi, G Bråthen, P Quist-Paulsen, J Pagonabarraga, C Roig-Arnall
A 29-year-old woman developed progressive dysarthria and coordination problems from the age of 15. Examination showed dysarthria, facial dystonia, bibrachial dystonia, hyperreflexia, ataxia, and emotional incontinence. Downward supranuclear gaze palsy was prominent with a "Round the Houses" sign. Magnetic resonance imaging of the brain and medulla, electroneurography, and cerebrospinal fluid were normal. A computed tomography scan showed hepatosplenomegaly. This combination of progressive neurological symptoms together with hepatosplenomegaly was suggestive of inborn error of metabolism...
February 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27924492/progression-of-gait-ataxia-in-patients-with-degenerative-cerebellar-disorders-a-4-year-follow-up-study
#9
Mariano Serrao, Giorgia Chini, Carlo Casali, Carmela Conte, Martina Rinaldi, Alberto Ranavolo, Christian Marcotulli, Luca Leonardi, Gaia Fragiotta, Fabiano Bini, Gianluca Coppola, Francesco Pierelli
In the present study, the progression of gait impairment in a group of patients with primary degenerative cerebellar ataxias was observed over a period of 4 years. A total of 30 patients underwent an initial gait analysis study, and thereafter only 12 were evaluated because they completed the 2- and 4-year follow-up evaluations. Time-distance parameters, trunk and joint range of motion (RoM), and variability parameters (e.g., coefficients of variation) were measured at the baseline and at each follow-up evaluation...
December 6, 2016: Cerebellum
https://www.readbyqxmd.com/read/27923188/electrophysiology-in-fisher-syndrome
#10
REVIEW
Satoshi Kuwabara, Yukari Sekiguchi, Sonoko Misawa
Fisher syndrome (FS), a variant of Guillain-Barré syndrome (GBS), is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. The lesion sites for these unique clinical features include the oculomotor nerves and group 1a neurons in the dorsal root ganglion, and the presence of FS is determined by the expression of ganglioside GQ1b in the human nervous system. Neurophysiological findings suggest that ataxia and areflexia are due to an impaired proprioceptive afferent system. Typically, the soleus H-reflex is absent and a body-sway analysis using posturography shows a 1-Hz peak, which indicates proprioception dysfunction...
November 20, 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/27923065/mutations-in-the-heme-exporter-flvcr1-cause-sensory-neurodegeneration-with-loss-of-pain-perception
#11
Deborah Chiabrando, Marco Castori, Maja di Rocco, Martin Ungelenk, Sebastian Gießelmann, Matteo Di Capua, Annalisa Madeo, Paola Grammatico, Sophie Bartsch, Christian A Hübner, Fiorella Altruda, Lorenzo Silengo, Emanuela Tolosano, Ingo Kurth
Pain is necessary to alert us to actual or potential tissue damage. Specialized nerve cells in the body periphery, so called nociceptors, are fundamental to mediate pain perception and humans without pain perception are at permanent risk for injuries, burns and mutilations. Pain insensitivity can be caused by sensory neurodegeneration which is a hallmark of hereditary sensory and autonomic neuropathies (HSANs). Although mutations in several genes were previously associated with sensory neurodegeneration, the etiology of many cases remains unknown...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27922010/mek-inhibitors-block-growth-of-lung-tumours-with-mutations-in-ataxia-telangiectasia-mutated
#12
Michal Smida, Ferran Fece de la Cruz, Claudia Kerzendorfer, Iris Z Uras, Barbara Mair, Abdelghani Mazouzi, Tereza Suchankova, Tomasz Konopka, Amanda M Katz, Keren Paz, Katalin Nagy-Bojarszky, Markus K Muellner, Zsuzsanna Bago-Horvath, Eric B Haura, Joanna I Loizou, Sebastian M B Nijman
Lung cancer is the leading cause of cancer deaths, and effective treatments are urgently needed. Loss-of-function mutations in the DNA damage response kinase ATM are common in lung adenocarcinoma but directly targeting these with drugs remains challenging. Here we report that ATM loss-of-function is synthetic lethal with drugs inhibiting the central growth factor kinases MEK1/2, including the FDA-approved drug trametinib. Lung cancer cells resistant to MEK inhibition become highly sensitive upon loss of ATM both in vitro and in vivo...
December 6, 2016: Nature Communications
https://www.readbyqxmd.com/read/27920713/late-onset-langerhans-cell-histiocytosis-with-cerebellar-ataxia-as-an-initial-symptom
#13
Jung-Min Pyun, Hyeyoung Park, Kyung Chul Moon, Beomseok Jeon
Late-onset progressive cerebellar ataxia is a diagnostic challenge because of a poor correlation between genotype and phenotype, and a broad range of secondary causes that extend beyond the neurological field. We report the case of a 45-year-old woman admitted after 2 years of slowly progressing cerebellar ataxia, dysarthria, and emotional instability. Notably, she was diagnosed with diabetes insipidus at the age of 35. As 'idiopathic cerebellar ataxia' was suspected, diagnostic tests, including genetic testing as well as serum and cerebrospinal fluid analyses, and brain magnetic resonance imaging (MRI) were performed...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/27919504/successful-treatment-of-paroxysmal-ataxia-and-dysarthria-in-multiple-sclerosis-with-levetiracetam
#14
Shikha J Goodwin, Adam F Carpenter
BACKGROUND: Paroxysmal ataxia and dysarthria (PAD) is a relatively rare symptom in Multiple Sclerosis patients. PAD involves transient dysfunction in control, coordination and initiation of speech and/or limb movements. OBJECTIVE: To describe the successful use of levetiracetam for the treatment of PAD. METHODS: Case report. RESULTS: A 37-year-old woman with MS developed PAD approximately 3 months after a multifocal MS relapse...
November 2016: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/27919248/bone-mineral-density-in-patients-with-multiple-sclerosis-hereditary-ataxia-or-hereditary-spastic-paraplegia-after-at-least-10%C3%A2-years-of-disease-a-case-control-study
#15
Cecilia Smith Simonsen, Elisabeth Gulowsen Celius, Cathrine Brunborg, Chantal Tallaksen, Erik Fink Eriksen, Trygve Holmøy, Stine Marit Moen
BACKGROUND: Although disability is considered the main cause of low bone mineral density (BMD) in multiple sclerosis (MS), other factors related to the disease process or treatment could also be involved. The aim of this study was to assess whether patients with MS are more likely to develop low BMD (osteopenia or osteoporosis) than patients with the non-inflammatory neurological diseases Hereditary Spastic Paraplegia (HSP) and Hereditary Ataxia (HA). METHODS: We performed a case control study comparing BMD (spine, hip and total body) and biochemical measures of bone metabolism in 91 MS patients and 77 patients with HSP or HA, matched for age, gender and disability...
December 5, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27918770/cerebellar-ataxia-and-hearing-impairment
#16
Chi-Ying Lin, Sheng-Han Kuo
No abstract text is available yet for this article.
December 5, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27916885/development-of-genetic-testing-for-fragile-x-syndrome-and-associated-disorders-and-estimates-of-the-prevalence-of-fmr1-expansion-mutations
#17
REVIEW
James N Macpherson, Anna Murray
The identification of a trinucleotide (CGG) expansion as the chief mechanism of mutation in Fragile X syndrome in 1991 heralded a new chapter in molecular diagnostic genetics and generated a new perspective on mutational mechanisms in human genetic disease, which rapidly became a central paradigm ("dynamic mutation") as more and more of the common hereditary neurodevelopmental disorders were ascribed to this novel class of mutation. The progressive expansion of a CGG repeat in the FMR1 gene from "premutation" to "full mutation" provided an explanation for the "Sherman paradox," just as similar expansion mechanisms in other genes explained the phenomenon of "anticipation" in their pathogenesis...
November 30, 2016: Genes
https://www.readbyqxmd.com/read/27916755/-the-nomenclature-and-classification-of-sporadic-spinocerebellar-degeneration
#18
Shunsuke Koga
Spinocerebellar degeneration (SCD) is a neurodegenerative disease characterized by progressive cerebellar ataxia. SCD has a wide range of clinical, pathological, and genetic features, including whether the disease is sporadic or hereditary, and whether it manifests as purely cerebellar or affects multiple systems. Therefore, the classification of SCD has been complicated and has changed over time. Recent advances in genetic testing have shed light on the classification of hereditary SCD. In contrast, the classification of sporadic SCD remains chaotic and there exist nomenclature discrepancies in sporadic SCD between Japanese and English literature...
December 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27916750/-pathophysiology-of-ataxia-in-fisher-syndrome
#19
Satoshi Kuwabara
Fisher syndrome is regarded as a peculiar inflammatory neuropathy associated with ophthalmoplegia, ataxia, and areflexia. The disorder is associated with preceding infection, cerebrospinal fluid albumino-cytological dissociation, and spontaneous recovery, and regarded as a variant of Guillain-Barré syndrome. The discovery of anti-GQ1b IgG antibodies led to dramatic advances in understanding the pathophysiology of Fisher syndrome. The lesions in Fisher syndrome are determined by expression of ganglioside GQ1b in the human nervous system...
December 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27915967/liver-transplant-can-resolve-severe-neuropsychiatric-manifestations-of-wilson-disease-a-case-report
#20
Gregory Walker, Trana Hussaini, Robert Stowe, Silke Cresswell, Eric M Yoshida
Although liver transplant for decompensated cirrhosis secondary to Wilson disease is well accepted, the use of transplant for patients with severe neurologic manifestations of this condition remains controversial, and these can be perceived as a contraindication. Here, we describe a 45-year-old woman who presented with an incidental hepatocellular carcinoma at the time of transplant. The patient had severe neurologic manifestations of Wilson disease pretransplant, including dysarthria, hyperreflexia, asymmetrical ataxia, tremor, bradyphrenia, and shuffling gait...
December 2, 2016: Experimental and Clinical Transplantation
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