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https://www.readbyqxmd.com/read/29033643/dandy-walker-malformation-presenting-with-affective-symptoms
#1
Mert Batmaz, Zeynep Ezgi Balçik, Ürün Özer, Burcu Hamurişçi Yalçin, Şakir Özen
Dandy-Walker malformation is defined by enlarged posterior fossa, cystic dilatation of the fourth ventricle, and cerebellar hypoplasia. Although developmental delay and mental retardation are common in Dandy-Walker malformation cases, other comorbid psychiatric conditions have been rarely reported. There are limited numbers of case reports about comorbidity of bipolar disorder with Dandy-Walker malformation in the literature. Herein, a Dandy-Walker malformation case presenting affective symptoms is reported, and psychiatric symptoms which might be seen in this rare malformation are discussed along with diagnosis, treatment, and follow-up processes...
September 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/29027670/chiari-like-malformation-in-two-cats
#2
S Minato, M Baroni
Two male, neutered, domestic, shorthaired cats were evaluated for progressive paresis and ataxia. Neurological examinations suggested a spinal cord lesion in each case. Complete blood examination and cerebrospinal fluid analysis were unremarkable in both cats. MRI revealed malformation of the occipital bone with herniation of the cerebellar vermis through the foramen magnum but without syringomyelia. Chiari-like malformation was suspected in both patients. MRI repeated one year later in both cats because of progression of clinical signs yielded the same findings as the initial scans...
October 13, 2017: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/29021643/cryptococcal-cerebellitis-in-no-vih-patient
#3
Fabricio Andres Lasso, Tomas Omar Zamora Bastidas, Jorge Andrés Potosí García, Bairon Díaz Idrobo
INTRODUCTION: Cryptococcosis is an opportunistic fungal infection whose etiology is Cryptococcus neofromans / C. gattii, complex which affects immunocompromised patients mainly. Meningeal infection is one of the most common presentations, but cerebellar affection is rare. CASE DESCRIPTION: Male patient with 65 old years, from an area of subtropical climate with chronic exposure to poultry, without pathological antecedents, who presented clinical picture consistent with headache, fever, seizures and altered mental status...
June 30, 2017: Colombia Médica: CM
https://www.readbyqxmd.com/read/28979829/hypertensive-encephalopathy-a-case-of-a-male-who-bit-off-his-fingers
#4
Carole H Kim, Saba Syed
Although altered consciousness and other neurologic manifestations are frequently seen in hypertensive encephalopathy, behavioral and psychotic symptoms are rarely seen. We describe a patient with no previous psychiatric history who was admitted for hypertensive crisis. A few days after admission, his blood pressure remained uncontrolled and he started to exhibit episodes of confusion, agitation, and psychosis. During one particular episode, he overcame multiple staff members and physical restraints to bite off two of his fingers without any signs of pain...
June 11, 2017: Curēus
https://www.readbyqxmd.com/read/28979190/motor-and-cerebellar-architectural-abnormalities-during-the-early-progression-of-ataxia-in-a-mouse-model-of-sca1-and-how-early-prevention-leads-to-a-better-outcome-later-in-life
#5
Mohamed F Ibrahim, Emmet M Power, Kay Potapov, Ruth M Empson
Exposing developing cerebellar Purkinje neurons (PNs) to mutant Ataxin1 (ATXN1) in 82Q spinocerebellar ataxia type 1 (SCA1) mice disrupts motor behavior and cerebellar climbing fiber (CF) architecture from as early as 4 weeks of age. In contrast, if mutant ATXN1 expression is silenced until after cerebellar development is complete, then its impact on motor behavior and cerebellar architecture is greatly reduced. Under these conditions even 6 month old SCA1 mice exhibit largely intact motor behavior and molecular layer (ML) and CF architecture but show a modest reduction in PN soma area as a first sign of cerebellar disruption...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28965847/hypomorphic-recessive-variants-in-sufu-impair-the-sonic-hedgehog-pathway-and-cause-joubert-syndrome-with-cranio-facial-and-skeletal-defects
#6
Roberta De Mori, Marta Romani, Stefano D'Arrigo, Maha S Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joel Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y Issa, Danila Anello, Antonella Casella, Monia Ginevrino, Autumn Sa'na Leggins, Susanne Roosing, Romina Alfonsi, Jessica Rosati, Rachel Schot, Grazia Maria Simonetta Mancini, Enrico Bertini, William B Dobyns, Tommaso Mazza, Joseph G Gleeson, Enza Maria Valente
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause a spectrum of developmental disorders. SUFU is the main negative regulator of the SHH pathway and is essential during development. Indeed, Sufu knock-out is lethal in mice, and recessive pathogenic variants of this gene have never been reported in humans...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28961751/selective-patterns-of-cognitive-impairment-in-spinocerebellar-ataxia-type-6-and-idiopathic-late-onset-cerebellar-ataxia
#7
Zubir S Rentiya, Brian C Jung, Junun Bae, Christine M Liszewski, Ann Fishman, Annie X Du, Russell L Margolis, Sarah H Ying
Purpose: To determine cognitive impairment patterns in patients with spinocerebellar ataxia type 6 (SCA6) compared to patients with idiopathic late-onset cerebellar ataxia (ILOCA). Methods: Neurocognitive testing was conducted on 21 SCA6, nine ILOCA, and 27 controls subjects. Intergroup differences were assessed using the Wilcoxon signed-ranked test or Student's t-test. Principal component analysis (PCA) was performed on nine cognitive variables, and Hotelling's T-squared test assessed group-specific differences...
September 7, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28959231/demographic-clinical-and-immunologic-features-of-389-children-with-opsoclonus-myoclonus-syndrome-a-cross-sectional-study
#8
Michael R Pranzatelli, Elizabeth D Tate, Nathan R McGee
Pediatric-onset opsoclonus-myoclonus syndrome (OMS) is a devastating neuroinflammatory, often paraneoplastic, disorder. The objective was to characterize demographic, clinical, and immunologic aspects in the largest cohort reported to date. Cross-sectional data were collected on 389 children in an IRB-approved, observational study at the National Pediatric Myoclonus Center. Non-parametric statistical analysis was used. OMS manifested in major racial/ethnic groups, paralleling US population densities. Median onset age was 1...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28956156/absence-of-clinical-cerebellar-syndrome-after-serial-injections-of-more-than-20-doses-of-gadoterate-a-macrocyclic-gbca-a-monocenter-retrospective-study
#9
Gaetano Perrotta, Thierry Metens, Julie Absil, Marc Lemort, Mario Manto
Sound evidence of gadolinium accumulation in brain has been recently provided after repeated administrations of linear gadolinium-based contrast agents (GBCAs), especially at the cerebellum level. Although data regarding brain accumulation of macrocyclic GBCAs are more reassuring, there is now a genuine concern ("gadolinium-phobia") about possible long-term consequences of gadolinium deposits, especially in terms of cerebellar sequelae. We, therefore, questioned about the clinical impact of serial administration of gadoterate meglumine, a macrocyclic GBCA...
September 27, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28954837/clinical-laboratory-and-molecular-findings-and-long-term-follow-up-data-in-96-french-patients-with-pmm2-cdg-phosphomannomutase-2-congenital-disorder-of-glycosylation-and-review-of-the-literature
#10
Manuel Schiff, Céline Roda, Marie-Lorraine Monin, Alina Arion, Magali Barth, Nathalie Bednarek, Maud Bidet, Catherine Bloch, Nathalie Boddaert, Delphine Borgel, Anaïs Brassier, Alexis Brice, Arnaud Bruneel, Roger Buissonnière, Brigitte Chabrol, Marie-Chantal Chevalier, Valérie Cormier-Daire, Claire De Barace, Emmanuel De Maistre, Anne De Saint-Martin, Nathalie Dorison, Valérie Drouin-Garraud, Thierry Dupré, Bernard Echenne, Patrick Edery, François Feillet, Isabelle Fontan, Christine Francannet, François Labarthe, Cyril Gitiaux, Delphine Héron, Marie Hully, Sylvie Lamoureux, Dominique Martin-Coignard, Cyril Mignot, Gilles Morin, Tiffany Pascreau, Olivier Pincemaille, Michel Polak, Agathe Roubertie, Christel Thauvin-Robinet, Annick Toutain, Géraldine Viot, Sandrine Vuillaumier-Barrot, Nathalie Seta, Pascale De Lonlay
BACKGROUND: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a multisystem inborn error of metabolism. OBJECTIVES: To better characterise the natural history of PMM2-CDG. METHODS: Medical charts of 96 patients with PMM2-CDG (86 families, 41 males, 55 females) were retrospectively reviewed. Data on clinical, laboratory and molecular parameters at diagnosis were analysed. Follow-up data at last examination were reported for 25 patients...
September 27, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28933964/identification-of-novel-spg11-mutations-in-a-cohort-of-chinese-families-with-hereditary-spastic-paraplegia
#11
Juan Du, Ya-Cen Hu, Bei-Sha Tang, Hong Jiang, Lu Shen
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological diseases. To date, studies about Chinese ARHSP have been small and limited to single case. To fill this gap, we have scanned the whole exons of KIAA1840, ZFYVE26, SPG7 and CYP7B1 genes in a group of 36 unrelated ARHSP families, which is the first study conducted to investigate the mutation frequency of these ARHSP types in China. Finally, SPG11 mutations are found in 33.33% (12/36) of ARHSP patients in our study, and no mutation was identified in SPG15, SPG5 or SPG7 genes...
September 21, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28926844/atypical-presentation-of-a-pediatric-cerebellar-ganglioglioma
#12
Richard Bram, Roberta J Seidman, David Chesler
BACKGROUND/AIMS: Gangliogliomas (GGs) are rare central nervous system tumors occurring primarily in the supratentorial compartment with infratentorial instances most often involving the brain stem. Infratentorial GGs typically present with signs and symptoms of increased intracranial pressure (ICP), cranial nerve deficits, or focal cerebellar findings; rarely, these tumors have been associated with focal seizures. METHODS: In this report, we describe an atypical presentation of a cerebellar GG in a 20-month-old male who initially presented with syncope and emesis in the absence of electrographic evidence of seizures, radiographic evidence of hydrocephalus, or elevated ICP...
September 20, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28922886/intracranial-bypass-of-posterior-inferior-cerebellar-artery-aneurysms-indications-technical-aspects-and-clinical-outcomes
#13
David J Bonda, Mohamad Labib, Jeffrey M Katz, Rafael A Ortiz, David Chalif, Avi Setton, David J Langer, Amir R Dehdashti
BACKGROUND: For some posterior inferior cerebellar artery (PICA) aneurysms, there is no constructive endovascular or direct surgical clipping option. Intracranial bypass is an alternative to a deconstructive technique. OBJECTIVE: To evaluate the clinical features, surgical techniques, and outcome of PICA aneurysms treated with bypass and obliteration of the diseased segment. METHODS: Retrospective review of PICA aneurysms treated via intracranial bypass was performed...
October 1, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28918510/acquired-hepatocerebral-degeneration-ahd-a-peculiar-neurological-impairment-in-advanced-chronic-liver-disease
#14
A Pigoni, F Iuculano, C Saetti, L Airaghi, L Burdick, S Spreafico, M Curioni, R Lombardi, L Valenti, A L Fracanzani, S Fargion
We discuss the case of a rare and often unrecognized neurologic syndrome, called Acquired Hepatocerebral Degeneration (AHD), observed in patients with advanced liver disease and portosystemic shunts. The clinical manifestations can be very heterogeneous and in our case included a combination of cerebellar and extrapyramidal signs, arisen in a period of few days. Brain Magnetic Resonance Imaging (MRI) showed, in T1-weighted images, diffuse bilateral hyper intensities in basal ganglia and biemispheric brain and cerebellar cortices, resembling paramagnetic deposits...
September 16, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28911048/what-can-different-motor-circuits-tell-us-about-psychosis-an-rdoc-perspective
#15
Vijay A Mittal, Jessica A Bernard, Georg Northoff
Signs of motor dysfunction are evidenced across a range of psychiatric disorders including schizophrenia. Historically, these features have been neglected but emerging theoretical and methodological advancements have shed new light on the utility of considering movement abnormalities. Indeed, the National Institute of Mental Health Research Domain Criteria initiative has recently met to develop a Motor Systems Domain. This reflects a growing appreciation for the enhanced reliability and validity that can come along with evaluating disturbances relevant to psychiatric illnesses from multiple levels of analysis, and conceptualizing these domains with respect to the complexity of their role in a broader integrated system (ie, weighing contributions and interactions between the cognitive, affective, and motor domains)...
September 1, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28904990/the-multiple-faces-of-spinocerebellar-ataxia-type-2
#16
REVIEW
Antonella Antenora, Carlo Rinaldi, Alessandro Roca, Chiara Pane, Maria Lieto, Francesco Saccà, Silvio Peluso, Giuseppe De Michele, Alessandro Filla
Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families. Occurrence is higher in specific populations such as the Cuban and Southern Italian. The disease is caused by a CAG expansion in ATXN2 gene, leading to abnormal accumulation of the mutant protein, ataxin-2, in intracellular inclusions. The clinical picture is mainly dominated by cerebellar ataxia, although a number of other neurological signs have been described, ranging from parkinsonism to motor neuron involvement, making the diagnosis frequently challenging for neurologists, particularly when information about the family history is not available...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28878663/subacute-cerebellar-degeneration-due-to-a-paraneoplastic-phenomenon-associated-with-metastatic-merkel-cell-carcinoma-a-case-report
#17
Angelos Sharobeam, Jason Ray, Juliana Dong, Victor Chong
PURPOSE: The aim of this article is to illustrate the diagnostic challenges and management of paraneoplastic neurological syndromes in Merkel cell carcinoma. MATERIALS AND METHODS: We describe a previously functionally independent 85-year-old woman who presented with subacute onset of dizziness and gait ataxia in the setting of metastatic Merkel cell carcinoma. RESULTS: Diagnosis was made on biopsy after positron emission tomography imaging revealed increased metabolic activity in 2 left inguinofemoral lymph nodes...
May 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28878050/antibody-associated-cns-syndromes-without-signs-of-inflammation-in-the-elderly
#18
Domingo Escudero, Mar Guasp, Helena Ariño, Carles Gaig, Eugenia Martínez-Hernández, Josep Dalmau, Francesc Graus
OBJECTIVE: To report the CNS syndromes of patients ≥60 years of age with antibodies against neuronal surface antigens but no evidence of brain MRI and CSF inflammatory changes. METHODS: This was a retrospective clinical analysis of patients with antibodies against neuronal surface antigens who fulfilled 3 criteria: age ≥60 years, no inflammatory abnormalities in brain MRI, and no CSF pleocytosis. Antibodies were determined with reported techniques. RESULTS: Among 155 patients ≥60 years of age with neurologic syndromes related to antibodies against neuronal surface antigens, 35 (22...
October 3, 2017: Neurology
https://www.readbyqxmd.com/read/28875427/epileptic-seizures-in-nonalcoholic-wernicke-s-encephalopathy-a-case-report-and-literature-review
#19
Wenjin Shang, Xiuhui Chen, Xunhua Li, Hongbing Chen, Shujin Tang, Hua Hong
Wernicke encephalopathy (WE) is characterized by eye signs, cerebellar dysfunction, and confusion. Epileptic seizures are rare in nonalcoholic WE. We reviewed the clinical, laboratory, radiological, and prognostic characteristics of nonalcoholic WE accompanied by epileptic seizures. We reported 1 case and searched similar cases using PubMed, WoK, Ovid, and Embase. WE was diagnosed according to dietary deficiencies, clinical symptoms and brain magnetic resonance imaging (MRI). We reviewed 13 patients (median age, 27 years; 5 men) with clear histories of thiamine deficiency and symptoms of typical WE...
September 6, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28868306/pseudotumoral-acute-cerebellitis-associated-with-mumps-infection-in-a-child
#20
Houda Ajmi, Mehdi Gaha, Sameh Mabrouk, Saida Hassayoun, Noura Zouari, Jalel Chemli, Saoussen Abroug
Pseudotumoral cerebellitis in childhood is an uncommon presentation of cerebellitis mimicking a brain tumor. It often follows an inflammatory or infectious event, particularly due to varicella virus. Patients could have a wide clinical spectrum on presentation. Some patients may be asymptomatic or present at most with mild cerebellar signs, whereas others may suffer severe forms with brainstem involvement and severe intracranial hypertension mimicking tumor warranting surgical intervention. Imaging techniques especially multimodal magnetic resonance imaging represent an interesting tool to differentiate between posterior fossa tumors and acute cerebellitis...
August 16, 2017: World Journal of Clinical Cases
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