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https://www.readbyqxmd.com/read/28438224/early-strong-intrathecal-inflammation-in-cerebellar-type-multiple-system-atrophy-by-cerebrospinal-fluid-cytokine-chemokine-profiles-a-case-control-study
#1
Ryo Yamasaki, Hiroo Yamaguchi, Takuya Matsushita, Takayuki Fujii, Akio Hiwatashi, Jun-Ichi Kira
BACKGROUND: The pathology of multiple system atrophy cerebellar-type (MSA-C) includes glial inflammation; however, cerebrospinal fluid (CSF) inflammatory cytokine profiles have not been investigated. In this study, we determined CSF cytokine/chemokine/growth factor profiles in MSA-C and compared them with those in hereditary spinocerebellar ataxia (SCA). METHODS: We collected clinical data and CSF from 20 MSA-C patients, 12 hereditary SCA patients, and 15 patients with other non-inflammatory neurological diseases (OND), and measured 27 cytokines/chemokines/growth factors using a multiplexed fluorescent bead-based immunoassay...
April 24, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28434958/microsurgical-resection-following-failed-gamma-knife-radiosurgery-of-papillary-tumor-of-the-pineal-gland
#2
Anil Nanda, Piyush Kalakoti, Devi Prasad Patra, Tanmoy Maiti, Hai Sun
Primary papillary tumors of the pineal region (PTPR) are rare entities with distinct histopathological characteristics. Most common surgical approaches include the supra-cerebellar infratentorial corridor or the occipital interhemispheric approach. Gamma knife radiosurgery (GKRS) is an acceptable treatment modality for parenchymal tumors of the pineal gland, and often used as a primary treatment modality for asymptomatic and indolent lesions, and as an adjunct to surgical resection. In this presentation, we describe the surgical nuances of posterior interhemispheric approach in an elderly male with a previously failed empirical GKRS...
April 18, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28431631/neuroimaging-findings-in-joubert-syndrome-with-c5orf42-gene-mutations-a-milder-form-of-molar-tooth-sign-and-vermian-hypoplasia
#3
Mikako Enokizono, Noriko Aida, Tetsu Niwa, Hitoshi Osaka, Takuya Naruto, Kenji Kurosawa, Chihiro Ohba, Toshifumi Suzuki, Hirotomo Saitsu, Tomohide Goto, Naomichi Matsumoto
PURPOSE: Little is known regarding neuroimaging-genotype correlations in Joubert syndrome (JBTS). To elucidate one of these correlations, we investigated the neuroimaging findings of JBTS patients with C5orf42 mutations. MATERIALS AND METHODS: Neuroimaging findings in five JBTS patients with C5orf42 mutations were retrospectively assessed with regard to the infratentorial and supratentorial structures on T1-magnetization prepared rapid gradient echo (MPRAGE), T2-weighted images, and color-coded fractional anisotropy (FA) maps; the findings were compared to those in four JBTS patients with mutations in other genes (including three with AHI1 and one with TMEM67 mutations)...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28415165/progressive-supranuclear-gaze-palsy-with-predominant-cerebellar-ataxia-a-case-series-with-videos
#4
Zheyu Xu, Tchoyoson C C Lim, Wing Lok Au, Louis C S Tan
Progressive supranuclear palsy (PSP) with predominant cerebellar ataxia (PSP-C) is a rare phenotype of PSP. The clinical and radiological features of this disorder remain poorly characterized. Through a retrospective case series, we aim to characterize the clinical and radiological features of PSP-C. Four patients with PSP-C were identified: patients who presented with prominent cerebellar dysfunction that disappeared with the progression of the disease. Supranuclear gaze palsy occurred at a mean of 2.0 ± 2...
April 18, 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28405535/signet-cell-in-the-brain-a-case-report-of-leptomeningeal-carcinomatosis-as-the-presenting-feature-of-gastric-signet-cell-cancer
#5
Saeed Ali, Muhammad Talha Khan, Evgeny A Idrisov, Aadil Maqsood, Fnu Asad-Ur-Rahman, Khalid Abusaada
Malignant infiltration of pia and arachnoid mater, referred to as leptomeningeal carcinomatosis (LMC), is a rare complication of gastric carcinoma. The most common underlying malignancy in patients with LMC are leukemia, breast cancer, lymphoma, and lung cancer. We report a case of gastric adenocarcinoma that presented with LMC in the absence of overt gastrointestinal signs or symptoms. A 56-year-old Hispanic woman presented to the hospital with a three-week history of intermittent headaches and visual blurring...
March 7, 2017: Curēus
https://www.readbyqxmd.com/read/28401768/primary-progressive-multiple-sclerosis-presenting-with-severe-predominant-cognitive-impairment-and-psychiatric-symptoms-a-challenging-case
#6
Alberto Andrea Zambon, Giordano Cecchetti, Francesca Caso, Roberto Santangelo, Cristina Baldoli, Maria Grazia Natali Sora, Giancarlo Comi, Giuseppe Magnani, Vittorio Martinelli
Severe cognitive dysfunction is a frequent feature of multiple sclerosis (MS), normally associated with later stages of the disease in adult population. Nevertheless, progressive cognitive and neuropsychiatric disturbances might rarely be the presenting and predominant symptom. In order to better characterize this peculiar phenotype of MS, we report on the case of a 38-year-old man who referred to our hospital with the suspect of hereditary leukodystrophy after 5 years of behavioral and mood abnormalities, global cognitive dysfunction, clumsiness, and very mild pyramidal and cerebellar signs...
April 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28393013/neural-substrates-of-motor-and-cognitive-dysfunctions-in-sca2-patients-a-network-based-statistics-analysis
#7
G Olivito, M Cercignani, M Lupo, C Iacobacci, S Clausi, S Romano, M Masciullo, M Molinari, M Bozzali, M Leggio
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome, which can be isolated or associated with extracerebellar signs. It has been shown that patients affected by SCA2 present also cognitive impairments and psychiatric symptoms. The cerebellum is known to modulate cortical activity and to contribute to distinct functional networks related to higher-level functions beyond motor control. It is therefore conceivable that one or more networks, rather than isolated regions, may be dysfunctional in cerebellar degenerative diseases and that an abnormal connectivity within specific cerebello-cortical regions might explain the widespread deficits typically observed in patients...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28386793/spinal-cord-damage-in-spinocerebellar-ataxia-type-1
#8
Carlos Roberto Martins, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Lucas Melo Teixeira Branco, José Luiz Pedroso, Orlando G P Barsottini, Iscia Lopes-Cendes, Marcondes C França
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder caused by a CAG repeat expansion, characterized by progressive cerebellar ataxia and pyramidal signs. Non-motor and extracerebellar symptoms may occur. MRI-based studies in SCA1 focused in the cerebellum and connections, but there are no data about cord damage in the disease and its clinical relevance. To evaluate in vivo spinal cord damage in SCA1, a group of 31 patients with SCA1 and 31 age- and gender-matched healthy controls underwent MRI on a 3T scanner...
April 6, 2017: Cerebellum
https://www.readbyqxmd.com/read/28382853/primary-cerebellar-lymphoma-with-hodgkin-lymphoma-like-morphology-in-a-cat
#9
Yuka Yoshino, James K Chambers, Taichi Nakamori, Yuko Goto-Koshino, Kazuo Nishigaki, Hajime Tsujimoto, Naoaki Matsuki, Hiroyuki Nakayama, Kazuyuki Uchida
A 4-y-old cat exhibited neurologic signs such as wobbling, right head tilt, and intention tremor, and MRI revealed a mass in the cerebellum. The cat died 5 mo after initial presentation, and no neoplastic lesions, other than the cerebellar mass, were observed at autopsy. Histologically, large atypical cells resembling Hodgkin cells, with single large inclusion-like nucleoli, and those resembling Reed-Sternberg cells, with symmetrically arranged nuclei, had infiltrated the left side of the cerebellum and were admixed with small lymphocytes...
April 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28382615/a-case-of-multiple-system-atrophy-with-preexisting-alzheimer-s-disease-and-predating-the-hot-cross-bun-sign
#10
Chi-Wei Lin, Chi-Yu Tseng, Chung-Ping Lo, Min-Chien Tu
PURPOSE: Synucleinopathy, tauopathy and amyloidopathy were classified as distinct clinical and pathological entities in traditional classification systems, and their interactions have been studied on neuropathology and molecular genetics recently. CASE REPORT: In this report, we present a 69-year-old male patient who had been diagnosed with probable Alzheimer's disease (AD) dementia due to progressive forgetfulness in February 2013. His Mini- Mental State Examination score was 21/30, and his Cognitive Abilities Screening Instrument score was 78/100, resulted from profound deficits in recent memory and abstract thinking domains...
December 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/28378233/multiple-system-atrophy-state-of-the-art
#11
REVIEW
Brice Laurens, Sylvain Vergnet, Miguel Cuina Lopez, Alexandra Foubert-Samier, François Tison, Pierre-Olivier Fernagut, Wassilios G Meissner
Multiple system atrophy (MSA) is a rare and fatal neurodegenerative disorder that is characterized by a variable combination of parkinsonism, cerebellar impairment, and autonomic dysfunction. Some symptomatic treatments are available while neuroprotection or disease-modification remain unmet treatment needs. The pathologic hallmark is the accumulation of aggregated alpha-synuclein (α-syn) in oligodendrocytes forming glial cytoplasmic inclusions, which qualifies MSA as synucleinopathy together with Parkinson's disease and dementia with Lewy bodies...
May 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28377255/safety-of-superior-petrosal-vein-sacrifice-during-microvascular-decompression-of-the-trigeminal-nerve
#12
Omar N Pathmanaban, Frazer O'Brien, Yahia Z Al-Tamimi, Charlotte L Hamerbeck-Ward, Scott A Rutherford, Andrew T King
BACKGROUND: Microvascular decompression (MVD) is a safe and effective treatment for trigeminal neuralgia (TGN). Cerebellar venous infarction is a complication associated with surgical sacrifice of the superior petrosal vein (SPV). The SPV intervenes between the trigeminal nerve and the surgeon. Optimal exposure of the cisternal trigeminal nerve, particularly at the brain stem, can be achieved by sacrificing the SPV. We analysed a cohort of 224 patients to determine the frequency of cerebellar venous infarction...
April 1, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28371804/muscle-pathology-as-a-diagnostic-clue-to-allgrove-syndrome
#13
Jens Reimann, Nicolai Kohlschmidt, Karen Tolksdorf, Joachim Weis, Klaus Kuchelmeister, Andreas Roos
Allgrove or triple A syndrome is a rare autosomal recessive disorder that can present with a variable range of multi-system manifestations, including optic atrophy, cerebellar ataxia, upper and lower motoneuron signs and various neuropathic abnormalities. These cases are a diagnostic challenge, particularly when the eponymous combination of achalasia, Addisonianism and alacrima is incomplete. Therefore, it is in the differential diagnosis for multisystem conditions and should be known to pathologists who diagnose disorders of skeletal muscle...
March 22, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28365635/lesson-of-the-month-2-a-choroid-plexus-papilloma-manifesting-as-anorexia-nervosa-in-an-adult
#14
Prateush Singh, Asim Khan, Georgia Scott, Manuel Jasper, Esha Singh
A Caucasian female previously diagnosed with anorexia nervosa was referred by psychiatric services to the general medical team. She presented with dehydration, vomiting, weakness, a body mass index of 13 kg/m(2) and was treated with intravenous and enteral supplementation. During admission her vomiting worsened and she developed visual hallucinations and confabulation. Neurological examination demonstrated cerebellar signs and bilateral papilloedema on fundoscopy. Subsequent magnetic resonance imaging of the brain revealed a large fourth ventricular tumour causing obstructive hydrocephalus...
April 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/28324197/the-spectrum-of-magnetic-resonance-findings-in-cerebrotendinous-xanthomatosis-redefinition-and-evidence-of-new-markers-of-disease-progression
#15
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
#16
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
#17
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
#18
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). Focusing on cerebellar Bergmann glia (BG) cells, which exhibit the highest rate of Cre-mediated recombination, we found a normal density of viable astrocytes even 1 year after tamoxifen-induced Cox10 gene targeting...
April 19, 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
#19
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
#20
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
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