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https://www.readbyqxmd.com/read/29243370/neurological-nutritional-and-alcohol-consumption-factors-underlie-cognitive-and-motor-deficits-in-chronic-alcoholism
#1
Rosemary Fama, Anne-Pascale Le Berre, Cheshire Hardcastle, Stephanie A Sassoon, Adolf Pfefferbaum, Edith V Sullivan, Natalie M Zahr
Variations in pattern and extent of cognitive and motor impairment occur in alcoholism (ALC). Causes of such heterogeneity are elusive and inconsistently accounted for by demographic or alcohol consumption differences. We examined neurological and nutritional factors as possible contributors to heterogeneity in impairment. Participants with ALC (n = 96) and a normal comparison group (n = 41) were examined on six cognitive and motor domains. Signs of historically determined subclinical Wernicke's encephalopathy were detected using the Caine et al...
December 15, 2017: Addiction Biology
https://www.readbyqxmd.com/read/29229339/hemangioblastomas-of-the-posterior-cranial-fossa-in-adults-demographics-clinical-morphological-pathological-surgical-features-and-outcomes-a-systematic-review
#2
Marin Kuharic, Dragan Jankovic, Bruno Splavski, Frederick A Boop, Kenan I Arnautovic
BACKGROUND: Posterior cranial fossa (PCF) hemangioblastomas are benign, highly vascularized, and well-differentiated tumors with well-described histopathologic features. Although relatively rare, this tumor is the most prevalent primary tumor of the cerebellum in adults. OBJECTIVE: Since the demographics of patients with such a tumor-as well as the clinical, morphological, pathological, surgical features, and outcomes-are not fully understood, we systematized characteristic patient and tumor features...
December 8, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29214039/clinical-and-genetic-analysis-of-spinocerebellar-ataxia-type-7-sca7-in-zambian-families
#3
Masharip Atadzhanov, Danielle C Smith, Mwila H Mwaba, Omar K Siddiqi, Alan Bryer, L Jacquie Greenberg
Background: To date, 43 types of Spinocerebellar Ataxias (SCAs) have been identified. A subset of the SCAs are caused by the pathogenic expansion of a CAG repeat tract within the corresponding gene. Ethnic and geographic differences are evident in the prevalence of the autosomal dominant SCAs. Few descriptions of the clinical phenotype and molecular genetics of the SCAs are available from the African continent. Established studies mostly concern the South African populations, where there is a high frequency of SCA1, SCA2 and SCA7...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29208342/pediatric-stroke-related-to-lyme-neuroborreliosis-data-from-the-swiss-neuropaediatric-stroke-registry-and-literature-review
#4
O Monteventi, M Steinlin, M Regényi, E Roulet-Perez, P Weber, J Fluss
BACKGROUND: Cerebrovascular complications of Lyme neuroborreliosis (LNB) are poorly documented in the paediatric population. METHODS: We performed a retrospective analysis from prospectively registered cases of acute ischemic stroke (AIS) from the Swiss NeuroPaediatric Stroke Registry (SNPSR) from 2000 to 2015. Only cases with serologically confirmed LNB were included. In addition, a literature review on paediatric stroke cases secondary to Lyme neuroborreliosis in the same time frame was performed...
November 24, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29208045/joubert-s-syndrome-and-related-disorders-and-home-based-peritoneal-dialysis-in-east-africa-a-case-report
#5
Grace M Musiime, Doris M W Kinuthia, Donald P Oyatsi, Wangui Manguyu
BACKGROUND: Joubert's syndrome is a rare condition affecting an estimated 1:80,000-1:100,000 individuals. There is underdevelopment of the cerebellar vermis resulting in a characteristic molar tooth sign on cross sectional axial magnetic resonance imaging. It can occur in association with multi-organ involvement; in such cases it is classified as Joubert's syndrome and related disorders. To date, there are no cases of Joubert's syndrome and related disorders from sub-Saharan Africa described in the literature...
December 6, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29204963/the-brain-test-a-keyboard-tapping-test-to-assess-disability-and-clinical-features-of-multiple-sclerosis
#6
Samuel Shribman, Hasan Hasan, Shahrzad Hadavi, Gavin Giovannoni, Alastair J Noyce
BACKGROUND: The BRadykinesia Akinesia INcordination (BRAIN) test is an online keyboard-tapping test previously validated as a sensitive tool for detecting signs of Parkinson's disease. OBJECTIVES: To determine whether the BRAIN test can measure disability in MS and identify the presence of pyramidal or cerebellar dysfunction. METHODS: Kinesia scores (KS, number of key taps in 30 s), akinesia times (AT, mean dwell time on each key) and incoordination scores (IS, variance of travelling time between keys) were calculated in 39 MS patients...
December 4, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29176570/population-scale-organization-of-cerebellar-granule-neuron-signaling-during-a-visuomotor-behavior
#7
Sherika J G Sylvester, Melanie M Lee, Alexandro D Ramirez, Sukbin Lim, Mark S Goldman, Emre R F Aksay
Granule cells at the input layer of the cerebellum comprise over half the neurons in the human brain and are thought to be critical for learning. However, little is known about granule neuron signaling at the population scale during behavior. We used calcium imaging in awake zebrafish during optokinetic behavior to record transgenically identified granule neurons throughout a cerebellar population. A significant fraction of the population was responsive at any given time. In contrast to core precerebellar populations, granule neuron responses were relatively heterogeneous, with variation in the degree of rectification and the balance of positive versus negative changes in activity...
November 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29168327/distinct-cerebellar-foliation-anomalies-in-a-chd7-haploinsufficient-mouse-model-of-charge-syndrome
#8
Danielle E Whittaker, Sahrunizam Kasah, Alex P A Donovan, Jacob Ellegood, Kimberley L H Riegman, Holger A Volk, Imelda McGonnell, Jason P Lerch, M Albert Basson
Mutations in the gene encoding the ATP dependent chromatin-remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital-urinary anomalies, and Ear defects) syndrome. Neurodevelopmental defects and a range of neurological signs have been identified in individuals with CHARGE syndrome, including developmental delay, lack of coordination, intellectual disability, and autistic traits. We previously identified cerebellar vermis hypoplasia and abnormal cerebellar foliation in individuals with CHARGE syndrome...
November 23, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29166939/acute-cerebellitis-in-adults-a-case-report-and-review-of-the-literature
#9
A Van Samkar, M N F Poulsen, H P Bienfait, R B Van Leeuwen
BACKGROUND: Acute cerebellitis is a rare disease with the majority of cases described in children. Little is known about the clinical characteristics and outcome in adults. CASE PRESENTATION: A 37-year-old Caucasian woman presented with headache, nausea, and photophobia, and was diagnosed as having a migraine attack. Two days later, she subsequently returned with aggravated headache, dysarthria and horizontal nystagmus. Magnetic resonance imaging (MRI) showed a swollen cerebellum and hydrocephalus and the patient was diagnosed with acute cerebellitis...
November 22, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29165689/oculomotor-disturbances-in-patients-with-chronic-nonspecific-spinal-pain
#10
Ruth Ruscheweyh, Antonia Fritz, Thomas Eggert, Shahnaz-Christina Azad, Andreas Straube
Objective: There is increasing evidence that the cerebellum has a role in pain processing. The present study investigates whether chronic pain patients, who are likely to have altered pain processing, exhibit signs of subtle cerebellar dysfunction. We used oculomotor tasks to assess dysfunction of the associated neuronal networks, including the cerebellum. Methods: Thirty patients with chronic nonspecific spinal pain and 30 age- and sex-matched controls were enrolled...
November 18, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/29145275/asymptomatic-syringomyelia-accompanied-with-metastatic-cerebellar-and-spinal-intramedullary-lymphoma-a-case-report
#11
Jia-Jia Zhou, Jin-Feng Xu, Xu-Ning Zheng, Guo-Ping Peng
RATIONALE: Asympotamic syringomyelia accompanied with metastatic cerebellar and thoracic spinal intramedullary lymphoma is rare in clinical practice. If the intramedullary lymphoma is large enough, the patient will rapidly develop neurologic signs of spinal injury. The prognosis of this type of complication is always bad. PATIENT CONCERNS: Rapid and correct diagnosis and treatment is important for metastatic extranodal lymphoma with B cell of origin. DIAGNOSES: Syringomyelia accompanied with metastatic cerebellar and thoracic spinal intramedullary lymphoma...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29135436/defective-synaptic-transmission-causes-disease-signs-in-a-mouse-model-of-juvenile-neuronal-ceroid-lipofuscinosis
#12
Benedikt Grünewald, Maren D Lange, Christian Werner, Aet O'Leary, Andreas Weishaupt, Sandy Popp, David A Pearce, Heinz Wiendl, Andreas Reif, Hans C Pape, Klaus V Toyka, Claudia Sommer, Christian Geis
Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the CLN3 gene is the most prevalent inherited neurodegenerative disease in childhood resulting in widespread central nervous system dysfunction and premature death. The consequences of CLN3 mutation on the progression of the disease, on neuronal transmission, and on central nervous network dysfunction are poorly understood. We used Cln3 knockout (Cln3(Δex1-6)) mice and found increased anxiety-related behavior and impaired aversive learning as well as markedly affected motor function including disordered coordination...
November 14, 2017: ELife
https://www.readbyqxmd.com/read/29129037/eye-movement-abnormalities-in-middle-cerebellar-peduncle-strokes
#13
Sung-Hee Kim, Ji-Soo Kim
The middle cerebellar peduncle (MCP) is a major conduit for cortico-ponto-cerebellar fibers that convey information related to eye movements. This study aims to elucidate eye movement abnormalities that arise from lesions confined to the MCP. In 23 patients with acute strokes restricted to unilateral MCPs, we investigated the clinical features and ocular motor findings including spontaneous nystagmus, saccades, smooth pursuit, ocular tilt reaction, and head impulse tests. Bithermal caloric tests and audiometry were also performed...
November 11, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29128626/neuroprotective-and-neurotrophic-effects-of-lanthionine-ketimine-ester
#14
Natalia Marangoni, Kathy Kowal, Zane Deliu, Kenneth Hensley, Douglas L Feinstein
Lanthionine ketimine ethyl ester (LKE) is a synthetic derivative of the naturally occurring amino acid lanthionine ketimine. We previously showed that LKE reduced clinical signs in a mouse model of multiple sclerosis (MS) associated with reductions in axonal damage; however, whether LKE has direct beneficial actions on mammalian neuronal cells was not examined. In the current study, we tested the effects of LKE in SH-SY5Y human neuronal cells and in primary mouse cerebellar granule neurons. In both cell types, LKE dose-dependently reduced the cell death that occurred spontaneously followed a change in media...
November 8, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29127364/comparing-ataxias-with-oculomotor-apraxia-a-multimodal-study-of-aoa1-aoa2-and-at-focusing-on-video-oculography-and-alpha-fetoprotein
#15
L L Mariani, S Rivaud-Péchoux, P Charles, C Ewenczyk, A Meneret, B B Monga, M-C Fleury, E Hainque, T Maisonobe, B Degos, A Echaniz-Laguna, M Renaud, T Wirth, D Grabli, A Brice, M Vidailhet, D Stoppa-Lyonnet, C Dubois-d'Enghien, I Le Ber, M Koenig, E Roze, C Tranchant, A Durr, B Gaymard, M Anheim
Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. We compared 40 patients with AOA1, AOA2 and AT, consecutively referred between 2008 and 2015 with 17 healthy subjects. Video-oculography revealed constant impairments in patients such as cerebellar signs, altered fixation, impaired pursuit, hypometric saccades and abnormal antisaccades. Horizontal saccade latencies could be highly increased reflecting oculomotor apraxia in one third of patients...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29121830/acute-reversible-toxic-encephalopathy-during-capecitabine-and-oxaliplatin-treatment
#16
João Godinho, Mafalda Casa-Nova, Teresa Mesquita, Maria João Baptista, Francisco Araújo, José Vale, José Luís Passos Coelho
Introduction Capecitabine is a fluoropyrimidine commonly used in the treatment of colorectal cancer which may cause central nervous system toxicity, namely cerebellar dysfunction. Case report We describe a 77-year-old man undergoing adjuvant treatment of colon cancer with capecitabine and oxaliplatin who presented with acute cerebellar ataxia and encephalopathy that progressed to coma. Diagnosis of toxic encephalopathy was made after the exclusion of alternative causes of neurological dysfunction and complete resolution of clinical findings with permanent discontinuation of chemotherapy...
January 1, 2017: Journal of Oncology Pharmacy Practice
https://www.readbyqxmd.com/read/29099286/fdg-pet-in-creutzfeldt-jakob-disease-analysis-of-clinical-pet-correlation
#17
Dimitri Renard, Giovanni Castelnovo, Laurent Collombier, Eric Thouvenot, Vincent Boudousq
OBJECTIVE: To assess the relationship between clinical pattern and cerebral glucose metabolism on [18F]fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET) in Creutzfeldt-Jakob disease (CJD). METHODS: Predefined clinical signs (ataxia, visual, pyramidal, myoclonus, limb apraxia, limb dystonia, sensory, parkinsonism, and corticobasal syndrome [CBS]) and FDG-PET data were assessed in consecutive CJD patients. Two types of statistical parametric mapping (SPM) analyses, using stringent level of significance p<0...
November 3, 2017: Prion
https://www.readbyqxmd.com/read/29098570/intracranial-melanotic-schwannomas-a-rare-variant-with-unusual-adherent-features
#18
D Mahato, T Vivas-Buitrago, K Gassie, M Jentoft, D Tavanaiepour, A Quiñones-Hinojosa
Intracranial melanotic schwannomas (IMSch) are extremely rare nerve sheath tumors with features of Schwann cells that produce melanin. After a thorough review of the available literature since 1967, we report not only the 20th case of IMSch but a comprehensive modern-era analysis of radiographic and histological key-points to be considered when diagnosing and treating patients with this rare known entity. This is the case of a 43 years-old woman who presented with severe headaches 9 years ago (2008). At that time, MRI of the brain showed a 1...
November 2, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29097033/-the-tumors-of-the-ear
#19
X Dubernard, J-C Kleiber, E Brenet, M-A Louges, Y Veleine, M Labrousse, M Makeieff, A Bazin, A Chays
Any cutaneous lesion of the outer ear must be managed jointly by a dermatologist and an ENT, regardless of the age of the patient. The presence of a malignant cutaneous carcinoma (Squamous cell carcinoma or melanoma) of the pavilion requires a minimum extension assessment by a cervical ultrasound, CT-scan and MRI will be prescribed according to the degree of infiltration and the presence of clinics signs (lymphadenopathy, facial paralysis, cognitive impairment). A polyp of the external auditory meatus must be systematically biopsied in consultation and, if necessary, in the operating room with fresh anatomopathological analysis...
October 30, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29095328/c9orf72-intermediate-repeat-expansion-in-a-patient-with-psychiatric-disorders-and-progressive-cerebellar-ataxia
#20
Mario Meloni, Rita Farris, Paolo Solla, Marcello M Mascia, Francesco Marrosu, Antonino Cannas
INTRODUCTION: Large expansions of the noncoding GGGGCC repeat (more than 30) in the first intron of the C9ORF72 gene have been demonstrated to cause amyotrophic lateral sclerosis and frontotemporal dementia. Recent papers have investigated the possible pathogenic role and associated clinical phenotypes of hexanucleotide expansions with intermediate repeat lengths ranging between 20 and 29 repeats. CASE REPORT: We report a case of a 71-year-old Sardinian female patient with a long history of psychiatric disorders such as mixed anxiety-depressive disorder associated with somatization disorder and histrionic personality who developed a slowly progressive cerebellar syndrome, mild cognitive impairment, pyramidal signs, and rapid eye movement sleep behavior disorder with imaging abnormalities on the DaTSCAN single-photon emission computed tomography indicating an alteration in the presynaptic dopaminergic system...
November 2017: Neurologist
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