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https://www.readbyqxmd.com/read/28324197/the-spectrum-of-magnetic-resonance-findings-in-cerebrotendinous-xanthomatosis-redefinition-and-evidence-of-new-markers-of-disease-progression
#1
Andrea Mignarri, Maria Teresa Dotti, Antonio Federico, Nicola De Stefano, Marco Battaglini, Irene Grazzini, Paolo Galluzzi, Lucia Monti
Cerebrotendinous xanthomatosis (CTX) is a metabolic disease characterized by systemic signs and neurological impairment, which can be prevented if chenodeoxycholic acid (CDCA) treatment is started early. Despite brain MRI represents an essential diagnostic tool, the spectrum of findings is worth to be reappraised, and follow-up data are needed. We performed clinical evaluation and brain MRI in 38 CTX patients. Sixteen of them who were untreated at baseline examination underwent clinical and MRI follow-up after long-term treatment with CDCA...
March 21, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28318729/acute-cerebellitis-in-paediatric-patients-our-experience
#2
J P García-Iñiguez, F J López-Pisón, P Madurga Revilla, I Montejo Gañán, M Domínguez Cajal, L Monge Galindo, S B Sánchez Marco, M C García Jiménez
INTRODUCTION: Acute cerebellitis is a rare inflammatory disease with a highly variable clinical course that ranges from benign self-limiting symptoms to a fulminant presentation associated with a high risk of death due to compression of the posterior fossa, acute hydrocephalus, and intracranial hypertension. METHODS: We reviewed clinical, laboratory, and radiological findings from children diagnosed with acute cerebellitis between May 2007 and November 2016. We analysed treatments and clinical and radiological progression...
March 15, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28314977/isolated-vestibular-syndromes-due-to-brainstem-and-cerebellar-lesions
#3
Sung-Hee Kim, Hyo Jung Kim, Ji-Soo Kim
Dizziness/vertigo is the most common symptoms of posterior circulation strokes. Isolated vestibular symptoms and signs without other neurologic deficits have been found in infarctions involving the brainstem and cerebellum. In the brainstem, infarctions responsible for isolated vestibular syndrome are usually restricted to the dorsal portion that contains the vestibular nucleus and the nucleus prepositus hypoglossi. Cerebellar lesions confined to the flocculus, tonsil, and nodulus also produce isolated vertigo and imbalance...
March 17, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28314814/respiration-deficient-astrocytes-survive-as-glycolytic-cells-in-vivo
#4
Lotti M Supplie, Tim Düking, Graham Campbell, Francisca Diaz, Carlos T Moraes, Magdalena Götz, Bernd Hamprecht, Susann Boretius, Don Mahad, Klaus-Armin Nave
Neurons and glial cells exchange energy-rich metabolites and it has been suggested, originally based on in vitro data, that astrocytes provide lactate to glutamatergic synapses ("lactate shuttle"). Here, we have studied astrocytes that lack mitochondrial respiration in vitro and in vivo A novel mouse mutant (GLAST(CreERT2):Cox10(flox/flox) ) was generated, in which the administration of tamoxifen causes mutant astrocytes to fail in the assembly of mitochondrial cytochrome c oxidase (COX). Focussing on cerebellar Bergmann glial cells that exhibit the highest rate of Cre-mediated recombination, we find a normal density of viable astrocytes even one year after tamoxifen-induced Cox10 gene targeting...
March 17, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28304188/the-effect-of-unilateral-thalamic-deep-brain-stimulation-on-the-vocal-dysfunction-in-a-patient-with-spasmodic-dysphonia-interrogating-cerebellar-and-pallidal-neural-circuits
#5
Anujan Poologaindran, Zurab Ivanishvili, Murray D Morrison, Linda A Rammage, Mini K Sandhu, Nancy E Polyhronopoulos, Christopher R Honey
Spasmodic dysphonia (SD) is a neurological disorder of the voice where a patient's ability to speak is compromised due to involuntary contractions of the intrinsic laryngeal muscles. Since the 1980s, SD has been treated with botulinum toxin A (BTX) injections into the throat. This therapy is limited by the delayed-onset of benefits, wearing-off effects, and repeated injections required every 3 months. In a patient with essential tremor (ET) and coincident SD, the authors set out to quantify the effects of thalamic deep brain stimulation (DBS) on vocal function while investigating the underlying motor thalamic circuitry...
March 17, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28300680/evaluation-by-mri-of-silent-brain-infarcts-in-pre-and-post-operative-asymptomatic-carotid-surgery
#6
Remy Pascot, Anne Daoudal, Alain Cardon, Gilles Godet, Antoine Lucas, Elodie Clochard, Jean-Yves Gauvrit, Yann Le Teurnier, Adrien Kaladji
OBJECTIVE: To report the prevalence of Silent Brain Infarcts (SBI) at MRI before and after surgery for asymptomatic high grade carotid stenosis. DESIGN: Single-center retrospective observational study METHODS: Asymptomatic patients who underwent carotid endarterectomy between October 2012 and October 2014 were included. The preoperative assessment included a Doppler and a CT scan dating less than 3 months. A neurological examination was performed during the anesthesia consultation and in the 15 days before surgery...
March 11, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28290427/posterior-inferior-cerebellar-artery-susceptibility-sign-in-lateral-medullary-syndrome
#7
B M Krishna Vadana, R Adhithyan, C Kesavadas, Veerendra Malik
No abstract text is available yet for this article.
March 2017: Neurology India
https://www.readbyqxmd.com/read/28264544/efficacy-of-bont-a-and-swallowing-treatment-for-oropharyngeal-dysphagia-recovery-in-a-patient-with-lateral-medullary-syndrome-a-case-study
#8
Irene Battel, Isabella Koch, Federica Biddau, Carla Carollo, Francesco Piccione, Francesca Meneghello, Merico Antonio, Katie Palmer, Rosario Marchese Ragona
BACKGROUND: Wallenberg's syndrome (WS) is known as posterior inferior cerebellar artery syndrome. Dysphagia has been reported from 51% to 94% of the patients, ranging from mild to severe. CASE PRESENTATION: We reported a case of a patient (Male; 52yrs) with WS. MRI showed an intense hypodense area in the dorsolateral part of the ponto-medullary junction. The clinical signs were severe dysphagia, fed by PEG (FOIS 1; PAS 7), sialorrhea, trismus and ataxia. CLINICAL REHABILITATION IMPACT: Dysphagia was treated by botulinum toxin tipe A (BoNT-A), which was injected into the parotid and submandibular salivary glands, temporalis and masseter muscles, cricopharyngeal muscle associated with specific swallowing exercise and food trails...
March 6, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28228833/disruption-of-the-photoreceptor-inner-segment-outer-segment-junction-in-a-6-year-old-girl-with-joubert-syndrome
#9
Shimpei Baba, Eri Takeshita, Hiroko Yamazaki, Mikako Tarashima, Masayuki Sasaki
Joubert syndrome (JS) is a spectrum of genetic disorders characterised by cerebellar and brainstem malformation called "molar tooth sign", resulting in hypotonia, developmental delay, and intellectual disability. Here we describe a young female JS patient with "salt-and-pepper" fundus and inner segment-outer segment junction (IS/OS line) discontinuity, with a lack of external limiting membrane. Ocular coherence tomography (OCT) detected blurred external retinal layers in the macula centre. Although JS patients often have retinal degeneration with varying severity, few investigators have utilised OCT in their investigations...
February 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28208915/an-unusual-occurrence-of-methicillin-resistant-staphylococcal-endocarditis-with-vancomycin-creep-phenomenon-a-therapeutic-challenge
#10
S Sneha, Shanthan Venishetty, Shubha Seshadri, M Sudhakar Rao, Chiranjay Mukhopadhyay
Infective endocarditis by Methicillin Resistant Staphylococcus aureus (MRSA) bacteraemia is a common association and carries a high mortality. However, rising Minimum Inhibitory Concentrations (MICs) for vancomycin amongst MRSA strains is an emerging threat which carries poor prognosis and higher mortality. Here, we report a case of 41-year-old young non-addict gentleman presenting with fever of 3 days duration following recovery from an acute kidney injury necessitating haemodialysis. Systemic examination revealed signs of mitral regurgitation and left sided cerebellar signs...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28203181/bilateral-superior-cerebellar-artery-embolic-occlusion-with-a-fetal-type-posterior-cerebral-artery-providing-collateral-circulation
#11
Taylor J Bergman, Rachael C Saporito, Thomas Hope
Bilateral infarction of the superior cerebellar arteries with sparing of the rest of the posterior circulation, particularly the posterior cerebral arteries, is an uncommon finding in neurological practice. Most commonly, the deficits of the superior cerebellar arteries and posterior cerebral arteries occur together due to the close proximity of their origins at the top of the basilar artery. A patient was transferred to the neurological intensive care unit with a history of recent-onset falls from standing, profound hypertension, dizziness, and headaches...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/28202694/pure-autonomic-failure-predictors-of-conversion-to-clinical-cns-involvement
#12
Wolfgang Singer, Sarah E Berini, Paola Sandroni, Robert D Fealey, Elizabeth A Coon, Mariana D Suarez, Eduardo E Benarroch, Phillip A Low
OBJECTIVE: Based on the observation that a subset of patients originally diagnosed with pure autonomic failure (PAF) eventually develops extrapyramidal or cerebellar involvement consistent with multiple system atrophy (MSA), Parkinson disease (PD), or dementia with Lewy bodies (DLB), we aimed to identify predictors of progression of PAF to more sinister synucleinopathies. METHODS: In this retrospective cohort study, we reviewed patients seen at Mayo Clinic Rochester by autonomic specialists between 2001 and 2011 and during initial evaluation diagnosed with orthostatic hypotension consistent with PAF (possible PAF)...
March 21, 2017: Neurology
https://www.readbyqxmd.com/read/28195523/characteristics-of-implicit-sensorimotor-adaptation-revealed-by-task-irrelevant-clamped-feedback
#13
John Ryan Morehead, Jordan A Taylor, Darius Parvin, Richard B Ivry
Sensorimotor adaptation occurs when there is a discrepancy between the expected and actual sensory consequences of a movement. This learning can be precisely measured, but its source has been hard to pin down because standard adaptation tasks introduce two potential learning signals: task performance errors and sensory prediction errors. Here we employed a new method that induces sensory prediction errors without task performance errors. This method combines the use of clamped visual feedback that is angularly offset from the target and independent of the direction of motion, along with instructions to ignore this feedback while reaching to targets...
February 14, 2017: Journal of Cognitive Neuroscience
https://www.readbyqxmd.com/read/28195100/a-54-year-old-male-with-rapidly-progressive-neurologic-syndrome-clinicopathologic-correlation-of-a-rare-diagnosis
#14
Deepti Mutreja, Nikhil Moorchung, Salil Gupta, Rajeev Saxena, Rohini S Doshetty, Bhaskar Nandi
Diagnosis of systemic lupus erythematosus (SLE) as primary presentation with central nervous system involvement as a rapidly progressive neurologic syndrome is extremely rare. We present a rare case of a 54-year-old hypertensive male patient, who presented with a fulminant neurologic syndrome. He presented with cerebellar and meningeal signs, aseptic meningitis and had a rapid downhill course following admission. A postmortem revealed feature of systemic connective tissue fulfilling diagnostic criteria of SLE with lupus cerebritis...
January 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28195034/treatment-of-spinocerebellar-ataxia-with-mesenchymal-stem-cells-a-phase-i-iia-clinical-study
#15
Yun-An Tsai, Ren-Shyan Liu, Jiing-Feng Lirng, Bang-Hung Yang, Chin-Hao Chang, YiChen Wang, Yu-Shan Wu, Jennifer Hui-Chun Ho, Oscar K Lee, Bing-Wen Soong
Ataxia is one of the most devastating symptoms of many neurodegenerative disorders. As of today, there isn’tany effective treatment to retard its progression. Mesenchymal stem cells (MSCs) have shown promise in treating neurodegenerative diseases. We hereby report the results of a phase I/IIa clinical study conducted in Taiwan to primarily evaluate the safety, tolerability and, secondarily, the possible efficacy of intravenous administration of allogeneic adipose tissuederived MSCs from healthy donors...
February 14, 2017: Cell Transplantation
https://www.readbyqxmd.com/read/28193273/stub1-chip-mutations-cause-gordon-holmes-syndrome-as-part-of-a-widespread-multisystemic-neurodegeneration-evidence-from-four-novel-mutations
#16
Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets, Matthis Synofzik
BACKGROUND: CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostasis and interacts with several key proteins involved in the pathogenesis of manifold neurodegenerative diseases. This gives rise to the hypothesis that mutations in STUB1 might cause a far more multisystemic neurodegenerative phenotype than the previously reported cerebellar ataxia syndrome. METHODS: Whole exome sequencing data-sets from n = 87 index subjects of two ataxia cohorts were screened for individuals with STUB1 mutations...
February 13, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28188217/hebbian-spike-timing-dependent-plasticity-at-the-cerebellar-input-stage
#17
M Sgritta, F Locatelli, T Soda, F Prestori, E D'Angelo
Spike-timing dependent plasticity (STDP) is a form of long-term synaptic plasticity exploiting the time relationship between postsynaptic action potentials (AP) and EPSPs. Surprisingly enough, very little was known about STDP in the cerebellum, although it is thought to play a critical role for learning appropriate timing of actions. We speculated that low-frequency oscillations observed in the granular layer may provide a reference for repetitive EPSP/AP phase coupling. Here we show that EPSP-spike pairing at 6Hz can optimally induce STDP at the mossy fiber - granule cell synapse in rats...
February 10, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28181693/frontotemporal-lobar-degeneration-tdp-with-multiple-system-atrophy-phenocopy-syndrome
#18
Ana Luísa Sousa, Ricardo Taipa, Niall Quinn, Tamas Revesz, Manuel Melo Pires, Marina Magalhães
Multiple system atrophy (MSA) is a neurodegenerative disorder presenting with parkinsonism, cerebellar involvement, autonomic dysfunction and pyramidal signs (1). Two main clinical subtypes of MSA are recognized: a parkinsonian-type (MSA-P) associated with predominant nigrostriatal degeneration and a cerebellar-type (MSA-C) with predominant olivopontocerebellar atrophy. A 'definite' diagnosis requires pathological confirmation with demonstration of glial cytoplasmic inclusions comprising alpha-synuclein protein aggregates (1)...
February 9, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28177040/clinical-pathological-and-molecular-evaluations-and-ct-scan-screening-of-coenurosis-coenurus-cerebralis-in-sheep-and-calves
#19
Abdullah Gazioglu, Sami Simsek, Omer Kizil, Ali Osman Ceribasi, Harun Kaya Kesik, Haroon Ahmed
The aims of this study were to diagnose coenurosis by means of computerized tomography (CT) scan imaging and molecular characterization of the CO1 gene using the polymerase chain reaction (PCR). Sheep and calves were necropsied, and CT scans on the cephalic region were performed on the animals. Sections of brain tissue infected with parasites were then stained with hematoxylin and eosin for microscopic examination. Material collected from brain cysts was fixed in 70% ethanol. PCR amplification was carried out using the CO1 mitochondrial gene...
February 6, 2017: Revista Brasileira de Parasitologia Veterinária, Brazilian Journal of Veterinary Parasitology
https://www.readbyqxmd.com/read/28176975/familial-aggregation-of-the-cerebellar-signs-in-familial-essential-tremor
#20
Elan D Louis, Nora Hernandez, Karen P Chen, Kelly V Naranjo, Jemin Park, Lorraine N Clark, Ruth Ottman
BACKGROUND: Although the hallmark feature of essential tremor (ET) is kinetic tremor, patients may exhibit additional motor features (e.g., intention tremor and mild gait ataxia) that are markers of an underlying abnormality of cerebellar function. ET is also a highly familial disorder, but we do not know whether the presence and expression of cerebellar signs are similar across family members. There are simply no published data. The alternative possibility is that these features are not heritable...
2017: Tremor and Other Hyperkinetic Movements
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