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https://www.readbyqxmd.com/read/29451301/intu-related-oral-facial-digital-syndrome-type-vi-a-confirmatory-report
#1
A-L Bruel, J Levy, N Elenga, A Defo, A Favre, H Lucron, Y Capri, L Perrin, S Passemard, Y Vial, A-C Tabet, L Faivre, C Thauvin-Robinet, A Verloes
Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD have been delineated. We describe here a child with preaxial and postaxial polydactyly, lingual hamartoma, a congenital heart defect, delayed development and cerebellar peduncles displaying the molar tooth sign...
February 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29443778/a-primitive-neuroectodermal-tumor-in-an-adult-case-report-of-a-unique-location-and-mri-characteristics
#2
Xin He, Zhongping Chen, Yutong Dong, Dan Tong
RATIONALE: Central nervous system primitive neuroectodermal tumors (CNS PNETs) mostly occur in children and present as cerebellar medulloblastoma. A few cases of PNETs occur in the cerebral hemisphere. The presence of a PNET in ventricles is extremely rare. The prognosis of CNS PNET is extremely poor, and the 5-year survival rate does not exceed 35%. In the present study, we describe the first case of a PNET in the ventricles with good prognosis. PATIENT CONCERNS: The case of a 36-year-old man is reported, who presented with a progressively worsening headache for 2 months...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29440566/comprehensive-systematic-review-summary-treatment-of-cerebellar-motor-dysfunction-and-ataxia-report-of-the-guideline-development-dissemination-and-implementation-subcommittee-of-the-american-academy-of-neurology
#3
Theresa A Zesiewicz, George Wilmot, Sheng-Han Kuo, Susan Perlman, Patricia E Greenstein, Sarah H Ying, Tetsuo Ashizawa, S H Subramony, Jeremy D Schmahmann, K P Figueroa, Hidehiro Mizusawa, Ludger Schöls, Jessica D Shaw, Richard M Dubinsky, Melissa J Armstrong, Gary S Gronseth, Kelly L Sullivan
OBJECTIVE: To systematically review evidence regarding ataxia treatment. METHODS: A comprehensive systematic review was performed according to American Academy of Neurology methodology. CONCLUSIONS: For patients with episodic ataxia type 2, 4-aminopyridine 15 mg/d probably reduces ataxia attack frequency over 3 months (1 Class I study). For patients with ataxia of mixed etiology, riluzole probably improves ataxia signs at 8 weeks (1 Class I study)...
February 9, 2018: Neurology
https://www.readbyqxmd.com/read/29434137/ipsiversive-ocular-torsion-skew-deviation-and-hearing-loss-as-initial-signs-of-anterior-inferior-cerebellar-artery-infarction
#4
Tameto Naoi, Mitsuya Morita, Tadataka Kawakami, Shigeru Fujimoto
A 67-year-old man with hypertension and type 2 diabetes mellitus was admitted to our hospital because of left hearing loss and vertical diplopia. A neurological examination showed ocular torsion, skew deviation, and sensorineural hearing loss in the left ear. Brainstem and cerebellar neurological signs were not observed. Left middle cerebellar peduncle infarction was evident on magnetic resonance imaging. He was treated with antiplatelet, however, the infarct progressed after this administration. Ocular tilt reaction (OTR) involves the triad of ocular torsion, skew deviation, and head tilt...
February 9, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29427108/clinical-features-of-machado-joseph-disease
#5
Nuno Mendonça, Marcondes C França, António Freire Gonçalves, Cristina Januário
Machado-Joseph disease (MJD) also known as Spinocerebellar ataxia type 3, is a hereditary neurodegenerative disease associated with severe clinical manifestations and premature death. Although rare, it is the most common autosomal dominant spinocerebellar ataxia worldwide and has a distinct geographic distribution, reaching peak prevalence in certain regions of Brazil, Portugal and China. Due to its clinical heterogeneity, it was initially described as several different entities and as had many designations over the last decades...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29411701/a-retrospective-study-of-the-neuropathology-and-diagnosis-of-naturally-occurring-feline-infectious-peritonitis
#6
Daniel R Rissi
Feline infectious peritonitis (FIP) is one of the most important viral diseases of cats worldwide. Our study describes the neuropathology and the diagnostic features of 26 cases of FIP in domestic cats. The average age of affected individuals was 11.8 mo, and there was no sex or breed predisposition. Clinical neurologic signs were noted in 22 cases, and rabies was clinically suspected in 11 cases. Twenty cats had lesions in multiple organs, and 6 cats had lesions only in the brain. Gross neuropathologic changes occurred in 15 cases and consisted of hydrocephalus (10 cases), cerebellar herniation through the foramen magnum (6 cases), cerebral swelling with flattening of gyri (2 cases), and accumulation of fibrin within ventricles (2 cases) or leptomeninges (1 case)...
February 1, 2018: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/29404361/double-conduction-through-the-atrioventricular-node-following-acute-medullary-infarction-a-case-report
#7
Salem A Salem, Nadish Garg, Raed Abu Shama, Sunil Jha, Showkat Haji, Muhammed Shahreyar, Devarshi Ardeshna
Lateral medullary syndrome (LMS), also known as Wallenberg's syndrome, PICA syndrome, results from occlusion of the posterior inferior cerebellar artery, with associated infarction of parts of medulla oblongata, and cerebellum on the ipsilateral side. It often manifests as various patterns of sensory, motor, and autonomic deficits. While sensorimotor dysfunction presents as a predicted pattern of clinical signs and symptoms, autonomic dysfunction is usually less clinically apparent, and can be easily mistaken as a concomitant pathology in the end organ it affects...
January 2018: Annals of Translational Medicine
https://www.readbyqxmd.com/read/29397530/childhood-rapid-onset-ataxia-expanding-the-phenotypic-spectrum-of-atp1a3-mutations
#8
Tommaso Schirinzi, Federica Graziola, Francesco Nicita, Lorena Travaglini, Fabrizia Stregapede, Massimiliano Valeriani, Paolo Curatolo, Enrico Bertini, Federico Vigevano, Alessandro Capuano
ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), together with many other intermediate phenotypes. Ataxia is always more increasingly reported, either as accessory or prominent sign, in ATP1A3-related conditions, being thus considered as a peculiar feature of this spectrum...
February 3, 2018: Cerebellum
https://www.readbyqxmd.com/read/29396718/chiari-type-i-malformation-of-infants-and-toddlers
#9
Gordan Grahovac, Tatiana Pundy, Tadanori Tomita
OBJECTIVES: Chiari I malformation has been a well-recognized clinical entity; however, its occurrence among infants and toddlers is unusual. Their clinical presentations may be different from other age groups due to their lack of effective verbal communication. The authors analyze their personal series of patients focusing on symptomatology and MRI characteristics. Treatment methods, results, and outcome are analyzed in order to identify appropriate surgical management among infants and toddlers with Chiari I malformation...
February 2, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29392647/evaluation-of-symmetrical-increased-echogenicity-of-bilateral-caudothalamic-grooves-detected-on-cranial-ultrasonography-by-comparing-with-susceptibility-weighted-imaging
#10
Mehmet S Dogan, Gonca Koc, Selim Doganay, Sumeyra Dogan, Ahmet Özdemir, Levent Korkmaz, Abdulhakim Coskun
OBJECTIVE: To assess symmetrical increased echogenicity of bilateral caudothalamic grooves (SIEBCG) detected on newborn cranial ultrasonography (CUS) using magnetic resonance susceptibility-weighted imaging (SWI). MATERIALS AND METHODS: A total of 14 newborns (8 girls; 12 premature with mean gestational age of 30 weeks and 5 days, 2 mature) who were detected to have SIEBCG on routine serial CUS and underwent cranial magnetic resonance imaging (MRI) were recruited for the study...
February 1, 2018: La Radiologia Medica
https://www.readbyqxmd.com/read/29390414/prenatal-diagnosis-of-joubert-syndrome-a-case-report-and-literature-review
#11
Lingling Zhu, Limei Xie
INTRODUCTION: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Molecular genetics research contributes to disease prediction and genetic counseling...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29379821/multiplex-family-with-gad65-abs-neurologic-syndromes
#12
Aude Belbezier, Bastien Joubert, Gonzalo Montero-Martin, Marcelo Fernandez-Vina, Nicole Fabien, Véronique Rogemond, Emmanuel Mignot, Jérôme Honnorat
Objective: Neurologic autoimmune syndromes associated with anti-glutamate acid decarboxylase 65 antibodies (GAD65-Abs) are rare and mostly sporadic. Methods: We describe a niece and her aunt with GAD65-Abs neurologic syndromes. High-resolution HLA typing of Class I and Class II alleles was performed using next-generation sequencing. Results: The proband had cerebellar ataxia and probable limbic encephalitis features, whereas her niece had stiff-person syndrome...
January 2018: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/29352662/distinct-progression-patterns-of-brain-disease-in-infantile-and-juvenile-gangliosidoses-volumetric-quantitative-mri-study
#13
Igor Nestrasil, Alia Ahmed, Josephine M Utz, Kyle Rudser, Chester B Whitley, Jeanine R Jarnes-Utz
BACKGROUND: GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease) are unrelenting heritable neurodegenerative conditions of lysosomal ganglioside accumulation. Although progressive brain atrophy is characteristic, longitudinal quantification of specific brain structures has not been systematically studied. OBJECTIVES: The goal of this longitudinal study has been to quantify and track brain MRI volume changes, including specific structure volume changes, at different times in disease progression of childhood gangliosidoses, and to explore quantitative brain MRI volumetry (qMRI) as a non-invasive marker of disease progression for future treatment trials...
December 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29338380/transplantation-of-human-neural-progenitor-cells-reveals-structural-and-functional-improvements-in-the-spastic-han-wistar-rat-model-of-ataxia
#14
Ruslan L Nuryyev, Toni L Uhlendorf, Wesley Tierney, Suren Zatikyan, Oleg Kopyov, Alex Kopyov, Jessica Ochoa, William Van Trigt, Cindy S Malone, Randy W Cohen
The use of regenerative medicine to treat nervous system disorders like ataxia has been proposed to either replace or support degenerating neurons. In this study, we assessed the ability of human neural progenitor cells (hNPCs) to repair and restore the function of dying neurons within the spastic Han-Wistar rat (sHW), a model of ataxia. The sHW rat suffers from neurodegeneration of specific neurons, including cerebellar Purkinje cells and hippocampal CA3 pyramidal cells leading to the observed symptoms of forelimb tremor, hind-leg rigidity, gait abnormality, motor incoordination, and a shortened life span...
November 2017: Cell Transplantation
https://www.readbyqxmd.com/read/29334914/-crying-without-tears-as-an-early-diagnostic-sign-post-of-triple-a-allgrove-syndrome-two-case-reports
#15
Daniel Tibussek, Sujal Ghosh, Angela Huebner, Joerg Schaper, Ertan Mayatepek, Katrin Koehler
BACKGROUND: Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are caused by mutations in the AAAS gene located on chromosome 12q13. However, the clinical picture as well as genetic testing may be complex since symptomatology is variable and mutations cannot be identified in all clinically diagnosed patients. We present two unrelated patients with triple-A syndrome illustrating the importance of alacrima as an early clinical sign...
January 15, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29334628/production-and-characterization-of-human-induced-pluripotent-stem-cells-ipscs-from-joubert-syndrome-cssi001-a-2850
#16
Jessica Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi
Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p...
January 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29330136/white-matter-volume-loss-in-amyotrophic-lateral-sclerosis-a-meta-analysis-of-voxel-based-morphometry-studies
#17
REVIEW
Guangxiang Chen, Baiwan Zhou, Hongyan Zhu, Weihong Kuang, Feng Bi, Hua Ai, Zhongwei Gu, Xiaoqi Huang, Su Lui, Qiyong Gong
Structural neuroimaging studies of white matter (WM) volume in amyotrophic lateral sclerosis (ALS) using voxel-based morphometry (VBM) have yielded inconsistent findings. This study aimed to perform a quantitative voxel-based meta-analysis using effect-size signed differential mapping (ES-SDM) to establish a statistical consensus between published studies for WM volume alterations in ALS. The pooled meta-analysis revealed significant WM volume losses in the bilateral supplementary motor areas (SMAs), bilateral precentral gyri (PGs), left middle cerebellar peduncle and right cerebellum in patients with ALS, involving the corticospinal tract (CST), interhemispheric fibers, subcortical arcuate fibers, projection fibers to the striatum and cortico-ponto-cerebellar tract...
January 9, 2018: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29316893/frequency-of-sca8-sca10-sca12-sca36-fxtas-and-c9orf72-repeat-expansions-in-sca-patients-negative-for-the-most-common-sca-subtypes
#18
Gülsah Aydin, Gabriele Dekomien, Sabine Hoffjan, Wanda Maria Gerding, Jörg T Epplen, Larissa Arning
BACKGROUND: Spinocerebellar ataxia (SCA) subtypes are often caused by expansions in non-coding regions of genes like SCA8, SCA10, SCA12 and SCA36. Other ataxias are known to be associated with repeat expansions such as fragile X-associated tremor ataxia syndrome (FXTAS) or expansions in the C9orf72 gene. When no mutation has been identified in the aforementioned genes next-generation sequencing (NGS)-based diagnostics may also be applied. In order to define an optimal diagnostic strategy, more information about the frequency and phenotypic characteristics of rare repeat expansion disorders associated with ataxia should be at hand...
January 9, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29310988/an-updated-diagnostic-approach-to-subtype-definition-of-vascular-parkinsonism-recommendations-from-an-expert-working-group
#19
REVIEW
Ivan Rektor, Nicolaas I Bohnen, Amos D Korczyn, Viktoria Gryb, Hrishikesh Kumar, Milica G Kramberger, Frank-Erik de Leeuw, Zvezdan Pirtošek, Irena Rektorová, Ilana Schlesinger, Jaroslaw Slawek, Peter Valkovič, Branislav Veselý
This expert working group report proposes an updated approach to subtype definition of vascular parkinsonism (VaP) based on a review of the existing literature. The persistent lack of consensus on clear terminology and inconsistent conceptual definition of VaP formed the impetus for the current expert recommendation report. The updated diagnostic approach intends to provide a comprehensive tool for clinical practice. The preamble for this initiative is that VaP can be diagnosed in individual patients with possible prognostic and therapeutic consequences and therefore should be recognized as a clinical entity...
December 29, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29305272/effect-of-hyperosmolar-therapy-on-outcome-following-spontaneous-intracerebral-hemorrhage-ethnic-racial-variations-of-intracerebral-hemorrhage-erich-study
#20
Manan Shah, Lee Birnbaum, Jennifer Rasmussen, Padmini Sekar, Charles J Moomaw, Jennifer Osborne, Anastasia Vashkevich, Daniel Woo
PURPOSE: We aimed to identify the effect of hyperosmolar therapy (mannitol and hypertonic saline) on outcomes after intracerebral hemorrhage (ICH) in the Ethnic/Racial Variations of Intracerebral Hemorrhage (ERICH) study. METHODS: Comparison of ICH cases treated with hyperosmolar therapy versus untreated cases was performed using a propensity score based on age, initial Glasgow Coma Scale, location of ICH (lobar, deep, brainstem, and cerebellar), log-transformed initial ICH volume, presence of intraventricular hemorrhage, and surgical interventions...
January 3, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
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