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https://www.readbyqxmd.com/read/29238697/ataxia-telangiectasia-mutated-modulation-of-carbon-metabolism-in-cancer
#1
REVIEW
Erika S Dahl, Katherine M Aird
The ataxia-telangiectasia mutated (ATM) protein kinase has been extensively studied for its role in the DNA damage response and its association with the disease ataxia telangiectasia. There is increasing evidence that ATM also plays an important role in other cellular processes, including carbon metabolism. Carbon metabolism is highly dysregulated in cancer due to the increased need for cellular biomass. A number of recent studies report a non-canonical role for ATM in the regulation of carbon metabolism. This review highlights what is currently known about ATM's regulation of carbon metabolism, the implication of these pathways in cancer, and the development of ATM inhibitors as therapeutic strategies for cancer...
2017: Frontiers in Oncology
https://www.readbyqxmd.com/read/29236946/reply-polr3a-variants-in-hereditary-spastic-paraplegia-and-ataxia
#2
Martina Minnerop, Delia Kurzwelly, Tim W Rattay, Dagmar Timmann, Holger Hengel, Matthis Synofzik, Claudia Stendel, Rita Horvath, Rebecca Schüle, Alfredo Ramirez
No abstract text is available yet for this article.
December 11, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29236819/impact-of-disease-duration-on-functional-status-of-patients-with-spinocerebellar-ataxia-type-2
#3
Thiago R Padilha Amarante, Sibele Y M Takeda, Hélio A G Teive, Marise Bueno Zonta
OBJECTIVE: To correlate disease duration in spinocerebellar ataxia type 2 (SCA2) with disease severity, balance and functionality. METHOD: Sixteen SCA2 patients were analyzed for: disease duration, disease severity (SARA score), balance (Berg balance scale score) and functionality (FIM and Lawton scores). RESULTS: Greater severity was correlated with worse functionality (Lawton: r = -0.0561, FIM: r = -0.6402) and balance (r = -0.7188). Longer disease duration was correlated with greater severity (p = 0...
November 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29236817/progression-of-spinocerebellar-ataxia-type-2-what-do-we-need-to-know
#4
EDITORIAL
Henrique Ballalai Ferraz
No abstract text is available yet for this article.
November 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29236168/clinical-and-magnetic-resonance-imaging-features-of-elderly-onset-dentatorubral-pallidoluysian-atrophy
#5
Atsuhiko Sugiyama, Noriko Sato, Yasuhiro Nakata, Yukio Kimura, Mikako Enokizono, Tomoko Maekawa, Madoka Kondo, Yuji Takahashi, Satoshi Kuwabara, Hiroshi Matsuda
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar ataxia caused by CAG triplet expansion in atrophin 1 and is frequently associated with cerebral white matter lesions. To elucidate the clinical features of elderly onset DRPLA and the key radiological findings for differentiating DRPLA from physiological white matter lesions in healthy elderly subjects, we reviewed the clinical and magnetic resonance imaging (MRI) features of ten patients with elderly onset genetically confirmed DRPLA (> 60 years) and compared their MRI findings with those of age- and sex-matched ten healthy subjects with asymptomatic cerebral white matter lesions...
December 13, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29235619/-spasticity-and-progressive-ataxia-due-to-vanishing-white-matter
#6
D Paez-Granda, A Jimenez-Sanchez, C Fernandez-Hernandez, C Serrano-Garcia
No abstract text is available yet for this article.
December 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/29234271/the-enigmatic-role-of-gba2-in-controlling-locomotor-function
#7
REVIEW
Marina A Woeste, Dagmar Wachten
The non-lysosomal glucosylceramidase GBA2 catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Loss of GBA2 function results in accumulation of glucosylceramide. Mutations in the human GBA2 gene have been associated with hereditary spastic paraplegia (HSP) and autosomal-recessive cerebellar ataxia (ARCA). Patients suffering from these disorders exhibit impaired locomotion and neurological abnormalities. GBA2 mutations found in these patients have been proposed to impair GBA2 function. However, the molecular mechanism underlying the occurrence of mutations in the GBA2 gene and the development of locomotor dysfunction is not well-understood...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29230817/ebv-encoded-mirnas-target-atm-mediated-response-in-nasopharyngeal-carcinoma
#8
Raymond W-M Lung, Pok-Man Hau, Ken H-O Yu, Kevin Y Yip, Joanna H-M Tong, W-P Chak, Anthony W-H Chan, Ka-Hei Lam, Angela K-F Lo, Edith K-Y Tin, Shuk-Ling Chau, Jesse C-S Pang, Johnny S-H Kwan, Pierre Busson, Lawrence S Young, Lee-Fah Yap, Sai-Wah Tsao, Ka-Fai To, Kwok-Wai Lo
Nasopharyngeal carcinoma (NPC) is a highly invasive epithelial malignancy that is prevalent in southern China and Southeast Asia. It is consistently associated with latent Epstein-Barr virus (EBV) infection. In NPC, miR-BARTs, the EBV-encoded miRNAs derived from BamH1-A rightward transcripts are abundantly expressed and contribute to cancer development by targeting various cellular and viral genes. In this study, we establish a comprehensive transcriptional profile of EBV-encoded miRNAs in a panel of NPC patient-derived xenografts and an EBV-positive NPC cell line by small RNA sequencing...
December 12, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/29229556/experimental-and-clinical-strategies-for-treating-spinocerebellar-ataxia-type-3
#9
REVIEW
Zijian Wang
Spinocerebellar ataxia type 3 (SCA3), or Machado-Joseph disease (MJD), is an autosomal dominant neurodegenerative disorder caused by the expansion of a polyglutamine (polyQ) tract in the ataxin-3 protein. To date, there is no effective therapy available to prevent progression of this disease. However, clinical strategies for alleviating various symptoms are imperative to promote a better quality of life for SCA3/MJD patients. Furthermore, experimental therapeutic strategies, including gene silencing or mutant protein clearance, mutant polyQ protein modification, stabilizing the native protein conformation, rescue of cellular dysfunction and neuromodulation to slow the progression of SCA3/MJD, have been developed...
December 8, 2017: Neuroscience
https://www.readbyqxmd.com/read/29228109/polr3a-variants-in-hereditary-spastic-paraplegia-and-ataxia
#10
Laurence Gauquelin, Martine Tétreault, Isabelle Thiffault, Emily Farrow, Neil Miller, Byunggil Yoo, Eric Bareke, Grace Yoon, Oksana Suchowersky, Nicolas Dupré, Mark Tarnopolsky, Bernard Brais, Nicole I Wolf, Jacek Majewski, Guy A Rouleau, Ziv Gan-Or, Geneviève Bernard
No abstract text is available yet for this article.
December 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29228015/development-of-an-iron-selective-antioxidant-probe-with-protective-effects-on-neuronal-function
#11
Olimpo García-Beltrán, Natalia P Mena, Pabla Aguirre, Germán Barriga-González, Antonio Galdámez, Edgar Nagles, Tatiana Adasme, Cecilia Hidalgo, Marco T Núñez
Iron accumulation, oxidative stress and calcium signaling dysregulation are common pathognomonic signs of several neurodegenerative diseases, including Parkinson´s and Alzheimer's diseases, Friedreich ataxia and Huntington's disease. Given their therapeutic potential, the identification of multifunctional compounds that suppress these damaging features is highly desirable. Here, we report the synthesis and characterization of N-(1,3-dihydroxy-2-(hydroxymethyl)propan-2-yl)-2-(7-hydroxy-2-oxo-2H-chromen-4-yl)acetamide, named CT51, which exhibited potent free radical neutralizing activity both in vitro and in cells...
2017: PloS One
https://www.readbyqxmd.com/read/29227141/cervical-porcupine-quill-foreign-body-involving-the-spinal-cord-of-a-dog-a-description-of-various-imaging-modality-findings
#12
Christelle Le Roux, Frans J Venter, Robert M Kirberger
Although porcupine quill injuries are common in dogs, the detailed appearance of the quill on diagnostic ultrasound, computed tomography, and magnetic resonance imaging has not been sufficiently described. A 4-year-old, intact, female Jack Russel terrier presented with severe neck pain and ataxia after an altercation with a porcupine 2 weeks earlier. Radiology, diagnostic ultrasound, computed tomography and magnetic resonance imaging were all utilised to identify a quill imbedded in the cervical vertebral canal and cervical musculature and were compared to each other...
December 8, 2017: Journal of the South African Veterinary Association
https://www.readbyqxmd.com/read/29226728/the-efficacy-and-safety-of-riluzole-for-neurodegenerative-movement-disorders-a-systematic-review-with-meta-analysis
#13
Jia Liu, Lu-Ning Wang
Neurodegenerative movement disorders mainly include Parkinson's disease, atypical parkinsonisms, Huntington disease, and hereditary ataxia. Riluzole is the only drug approved by the US Food and Drug Administration for amyotrophic lateral sclerosis. The neuroprotective effects of riluzole have been observed in experimental models of neurodegenerative movement disorders. In this paper, we aimed to systematically analyze the efficacy and safety of riluzole for patients with neurodegenerative movement disorder...
November 2018: Drug Delivery
https://www.readbyqxmd.com/read/29225828/cefepime-induced-neurotoxicity-in-a-pediatric-patient-on-chronic-hemodialysis-a-case-report
#14
Monica Guzman-Limon, Subha Amatya, Joshua Samuels, Rita Swinford, Sonal Bhatnagar, Joyce Samuel
Impaired renal function increases the risk for cefepime-induced neurotoxicity. Symptoms include disorientation, myoclonus, status epilepticus, ataxia, gait disturbance, coma, and death. A high index of suspicion and early recognition of symptoms can minimize the risk of progression of symptoms to permanent neurologic impairment or death.
December 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29225306/what-do-eye-movements-tell-us-about-patients-with-neurological-disorders-an-introduction-to-saccade-recording-in-the-clinical-setting
#15
Yasuo Terao, Hideki Fukuda, Okihide Hikosaka
Non-invasive and readily implemented in the clinical setting, eye movement studies have been conducted extensively not only in healthy human subjects but also in patients with neurological disorders. The purpose of saccade studies is to "read out" the pathophysiology underlying neurological disorders from the saccade records, referring to known primate physiology. In the current review, we provide an overview of studies in which we attempted to elucidate the patterns of saccade abnormalities in over 250 patients with neurological disorders, including cerebellar ataxia and brainstem pathology due to neurodegenerative disorders, and what they tell about the pathophysiology of patients with neurological disorders...
2017: Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
https://www.readbyqxmd.com/read/29224958/renal-involvement-in-neuropathy-ataxia-retinitis-pigmentosa-narp-syndrome-a-case-report
#16
Sandrine Lemoine, Marine Panaye, Maud Rabeyrin, Elisabeth Errazuriz-Cerda, Bénédicte Mousson de Camaret, Philippe Petiot, Laurent Juillard, Fitsum Guebre-Egziabher
We report a case of a patient who had the mitochondrial cytopathy complex of neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome diagnosed at age 11 years with a biopsy-proven kidney involvement that progressed to end-stage renal disease at age 21 years. Mutations of mitochondrial DNA (mtDNA) are maternally inherited and lead to mitochondrial cytopathies with predominant neurologic manifestations: psychomotor retardation, epilepsy, ataxia, neuropathy, and myopathy. Given the ubiquitous nature of mitochondria, cellular dysfunction can also appear in tissues with high metabolic turnover; thus, there can be cardiac, digestive, ophthalmologic, and kidney complications...
December 7, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29223733/mitochondrial-pore-opening-and-loss-of-ca2-exchanger-nclx-levels-occur-after-frataxin-depletion
#17
R Purroy, E Britti, F Delaspre, J Tamarit, J Ros
Frataxin-deficient neonatal rat cardiomyocytes and dorsal root ganglia neurons have been used as cell models of Friedreich ataxia. In previous work we show that frataxin depletion resulted in mitochondrial swelling and lipid droplet accumulation in cardiomyocytes, and compromised DRG neurons survival. Now, we show that these cells display reduced levels of the mitochondrial calcium transporter NCLX that can be restored by calcium-chelating agents and by external addition of frataxin fused to TAT peptide. Also, the transcription factor NFAT3, involved in cardiac hypertrophy and apoptosis, becomes activated by dephosphorylation in both cardiomyocytes and DRG neurons...
December 6, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29223504/potential-pathogenic-mechanisms-underlying-fragile-x-tremor-ataxia-syndrome-ran-translation-and-or-rna-gain-of-function
#18
REVIEW
Manon Boivin, Rob Willemsen, Renate K Hukema, Chantal Sellier
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disease caused by an expansion of 55-200 CGG repeats located in the FMR1 gene. The main clinical and neuropathological features of FXTAS are progressive intention tremor and gait ataxia associated with brain atrophy, neuronal cell loss and presence of ubiquitin-positive intranuclear inclusions in both neurons and astrocytes. At the molecular level, FXTAS is characterized by increased expression of FMR1 sense and antisense RNA containing expanded CGG or GGC repeats, respectively...
December 6, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29223069/neuropsychological-and-clinical-heterogeneity-of-cognitive-impairment-in-patients-with-multiple-system-atrophy
#19
Lorena Broseghini Barcelos, Flávia Saad, Carla Giacominelli, Roberta Arb Saba, Patrícia Maria de Carvalho Aguiar, Sonia Maria Azevedo Silva, Vanderci Borges, Paulo Henrique Ferreira Bertolucci, Henrique Ballalai Ferraz
OBJECTIVE: We evaluated neuropsychological tests to compare cognitive impairment between two types of multiple system atrophy: predominant parkinsonism (MSA-P) and predominant cerebellar ataxia (MSA-C). PATIENTS AND METHODS: This cross-sectional study included 14 patients diagnosed with MSA: four with MSA-C and ten with MSA-P. Presence of motor symptoms was determined by using the Unified Rating MSA Scale (URMSAS). Non-motor symptoms were evaluated by the Short Form Health Survey (SF-36), Scales for Outcomes in Parkinson's disease Autonomic (SCOPA-AUT), Hospital Anxiety and Depression Scale (HADS), and Beck Depression Inventory (BDI)...
October 31, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29222849/bone-marrow-transplantation-improves-motor-activity-in-a-mouse-model-of-ataxia
#20
David Díaz, Marina Piquer-Gil, Javier Sánchez Recio, María Magdalena Martínez-Losa, José Ramón Alonso, Eduardo Weruaga, Manuel Álvarez-Dolado
Ataxias are locomotor disorders that can have an origin both neural and muscular, although both impairments are related. Unfortunately, ataxia has no cure and the current therapies are aimed at motor re-education or muscular reinforcement. Nevertheless, cell therapy is becoming a promising approach to deal with incurable neural diseases, including neuro-muscular ataxias. Here we have used a model of ataxia, the PCD mutant mouse, to study the effect of healthy (wild-type) bone marrow transplantation on the restoration of defective mobility...
December 8, 2017: Journal of Tissue Engineering and Regenerative Medicine
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