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https://www.readbyqxmd.com/read/28737365/vim-thalamotomy-in-the-treatment-of-holmes-tremor-secondary-to-hiv-associated-midbrain-lesion-a-case-report
#1
José O Oliveira, Soraya A Jorge Cecilio, Matheus Fernandes Oliveira, Leonardo R Takahashi, Alexandro R Galassi, Vanessa M Holanda, José M Rotta
Holmes' tremor (rubral tremor, cerebellar outflow tremor) is characterized by rest, intention and postural tremor, often localized to one upper extremity, associated with ipsilateral dysmetria and dysdiadochokinesia. We describe a case of successful treatment of Holmes' tremor with unilateral nucleus ventralis intermedius (VIM) thalamotomy. The subject is a 43-year-old woman with unremarkable previous medical history. She presented with complete left hemiparesis in the context of human immunodeficiency syndrome and the magnetic resonance image disclosed a contrast-enhancing lesion in right brain peduncle, in topography of red nucleus...
October 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/28725569/psychiatric-adult-onset-of-urea-cycle-disorders-a-case-series
#2
Adrien Bigot, Paul Brunault, Christian Lavigne, François Feillet, Sylvie Odent, Elsa Kaphan, Christel Thauvin, Vanessa Leguy, Pierre Broué, Michel C Tchan, François Maillot
Adult onset urea cycle disorders (UCD) may present with psychiatric symptoms, occasionally as the initial presentation. We aimed to describe the characteristics of patients presenting with a psychiatric adult-onset of UCDs, to discuss which signs could suggest this diagnosis in such a situation, and to determine which tests should be conducted. A survey of psychiatric symptoms occurring in teenagers or adults with UCD was conducted in 2010 among clinicians involved in the French society for the study of inborn errors of metabolism (SFEIM)...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28687974/syne1-related-cerebellar-ataxia-presents-with-variable-phenotypes-in-a-consanguineous-family-from-turkey
#3
E Yucesan, Sibel A Ugur Iseri, B Bilgic, Z Gormez, B Bakir Gungor, A Sarac, O Ozdemir, M Sagiroglu, H Gurvit, H Hanagasi, U Ozbek
SYNE1 related autosomal recessive cerebellar ataxia type 1 (ARCA1) is a late-onset cerebellar ataxia with slow progression originally demonstrated in French-Canadian populations of Quebec, Canada. Nevertheless, recent studies on SYNE1 ataxia have conveyed the condition from a geographically limited pure cerebellar recessive ataxia to a complex multisystem phenotype that is relatively common on the global scale. To determine the underlying genetic cause of the ataxia phenotype in a consanguineous family from Turkey presenting with very slow progressive cerebellar symptoms including dysarthria, dysmetria, and gait ataxia, we performed SNP-based linkage analysis in the family along with whole exome sequencing (WES) in two affected siblings...
July 7, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28673510/eye-movements-in-essential-tremor-patients-with-parkinsonian-and-cerebellar-signs
#4
Magdalena Wójcik-Pędziwiatr, Elżbieta Mirek, Monika Rudzińska-Bar, Andrzej Szczudlik
Apart from intention tremor essential tremor (ET) patients may display other cerebellar signs, like dysmetria or tandem gait disturbances as well as parkinsonian signs like resting tremor, cogwheel sign, subtle bradykinesia. Previous reports claimed the occurrence of the eye movement abnormalities characteristic for dysfunction of cerebellar dorsal vermis in ET patients with concomitant cerebellar signs. There are no previous reports evaluating the eye movement abnormalities in ET patients with concomitant parkinsonian signs...
May 17, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28648497/selective-optogenetic-control-of-purkinje-cells-in-monkey-cerebellum
#5
Yasmine El-Shamayleh, Yoshiko Kojima, Robijanto Soetedjo, Gregory D Horwitz
Purkinje cells of the primate cerebellum play critical but poorly understood roles in the execution of coordinated, accurate movements. Elucidating these roles has been hampered by a lack of techniques for manipulating spiking activity in these cells selectively-a problem common to most cell types in non-transgenic animals. To overcome this obstacle, we constructed AAV vectors carrying the channelrhodopsin-2 (ChR2) gene under the control of a 1 kb L7/Pcp2 promoter. We injected these vectors into the cerebellar cortex of rhesus macaques and tested vector efficacy in three ways...
July 5, 2017: Neuron
https://www.readbyqxmd.com/read/28638854/autoimmune-episodic-ataxia-in-patients-with-anti-caspr2-antibody-associated-encephalitis
#6
Bastien Joubert, Florent Gobert, Laure Thomas, Margaux Saint-Martin, Virginie Desestret, Philippe Convers, Véronique Rogemond, Géraldine Picard, François Ducray, Dimitri Psimaras, Jean-Christophe Antoine, Jean-Yves Delattre, Jérôme Honnorat
OBJECTIVE: To report paroxysmal episodes of cerebellar ataxia in a patient with anti-contactin-associated protein-like 2 (CASPR2) antibody-related autoimmune encephalitis and to search for similar paroxysmal ataxia in a cohort of patients with anti-CASPR2 antibody-associated autoimmune encephalitis. METHODS: We report a patient with paroxysmal episodes of cerebellar ataxia observed during autoimmune encephalitis with anti-CASPR2 antibodies. In addition, clinical analysis was performed in a retrospective cohort of 37 patients with anti-CASPR2 antibodies to search for transient episodes of ataxia...
July 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28578638/temporal-processing-deficit-leads-to-impaired-multisensory-binding-in-schizophrenia
#7
Mikhail Zvyagintsev, Carmen Parisi, Klaus Mathiak
INTRODUCTION: Schizophrenia has been characterised by neurodevelopmental dysconnectivity resulting in cognitive and perceptual dysmetria. Hence patients with schizophrenia may be impaired to detect the temporal relationship between stimuli in different sensory modalities. However, only a few studies described deficit in perception of temporally asynchronous multisensory stimuli in schizophrenia. METHODS: We examined the perceptual bias and the processing time of synchronous and delayed sounds in the streaming-bouncing illusion in 16 patients with schizophrenia and a matched control group of 18 participants...
June 3, 2017: Cognitive Neuropsychiatry
https://www.readbyqxmd.com/read/28499971/selective-reward-affects-the-rate-of-saccade-adaptation
#8
Yoshiko Kojima, Robijanto Soetedjo
In this study we tested whether a selective reward could affect the adaptation of saccadic eye movements in monkeys. We induced the adaptation of saccades by displacing the target of a horizontal saccade vertically as the eye moved toward it, thereby creating an apparent vertical dysmetria. The repeated upward target displacement caused the originally horizontal saccade to gradually deviate upward over the course of several hundred trials. We induced this directional adaptation in both right- and leftward saccades in every experiment (n=20)...
July 4, 2017: Neuroscience
https://www.readbyqxmd.com/read/28335042/acute-sensory-neuronopathy-following-enterovirus-infection-in-a-3-year-old-girl
#9
Chih-Chin Chiu, Chen-Ya Yang, Tsui-Fen Yang, Kon-Ping Lin, Shou-Hsien Huang, Jia-Chi Wang
Acute sensory neuronopathy (SNN) is a rapidly developing peripheral nervous system disease that primarily affects sensory neurons in the dorsal root ganglion or trigeminal ganglion, leading to the impairment of sensory axons. SNN is notably uncommon in childhood; only three cases of childhood or adolescent SNN have been reported to date. Moreover, SSN has never been reported in association with enterovirus infection. Here, we report the case of a 3-year-old girl who was initially diagnosed with enterovirus infection based on the presentation of fevers, rashes on all extremities, and ulceration over the posterior pharynx...
March 23, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28318729/acute-cerebellitis-in-paediatric-patients-our-experience
#10
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/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/28149393/eye-movement-abnormalities-in-essential-tremor
#12
Magdalena Wójcik-Pędziwiatr, Klaudia Plinta, Agnieszka Krzak-Kubica, Katarzyna Zajdel, Marcel Falkiewicz, Jacek Dylak, Jan Ober, Andrzej Szczudlik, Monika Rudzińska
Essential tremor (ET) is the most prevalent movement disorder, characterized mainly by an action tremor of the arms. Only a few studies published as yet have assessed oculomotor abnormalities in ET and their results are unequivocal. The aim of this study was to assess the oculomotor abnormalities in ET patients compared with the control group and to find the relationship between oculomotor abnormalities and clinical features of ET patients. We studied 50 ET patients and 42 matched by age and gender healthy controls...
September 1, 2016: Journal of Human Kinetics
https://www.readbyqxmd.com/read/28141723/anxiety-associated-with-asthma-exacerbations-and-overuse-of-medication-the-role-of-cultural-competency
#13
Yousuke T Horikawa, Tina Y Udaka, Janet K Crow, John I Takayama, Martin T Stein
Toshi, a 14-year-old Japanese boy, had uncontrolled asthma after relocating from Japan with his family 1 year ago. In Japan, he was diagnosed with moderate, persistent asthma, which was controlled with salmeterol and albuterol on an as needed basis. Since moving to the United States, Toshi complained of frequent dyspnea.Initially, he was seen by a Japanese physician who prescribed 200 mg of fluticasone 3 times a day and albuterol nebulization as needed. When Toshi came to the Pediatric Primary Care Clinic, he reported using his nebulizer up to 25 times daily...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28119944/liver-transplantation-as-a-treatment-for-severe-refractory-vitamin-e-deficiency-related-to-progressive-familial-intrahepatic-cholestasis-type-2-in-a-pediatric-patient
#14
Elizabeth Collyer, Vera Hupertz, Bijan Eghtesad, Kadakkal Radhakrishnan
Refractory vitamin E deficiency is thought to have irreversible effects on neurologic function. We report an adolescent boy with severe refractory vitamin E deficiency due to progressive familial intrahepatic cholestasis (PFIC) type 2. His consequent neurologic dysfunction included severe ataxia, dysmetria, dysarthria, and cranial nerve VI palsy. He underwent liver transplantation at age 13 due to his neurologic dysfunction; and afterward, he had marked improvement in neurologic function. We demonstrate that in a patient with PFIC 2 and severe refractory vitamin E deficiency, liver transplant can improve vitamin E absorption, prevent further neurological sequelae, and reverse prior neurologic dysfunction...
August 2016: ACG Case Reports Journal
https://www.readbyqxmd.com/read/28093369/rehabilitation-of-the-pontine-ataxia-dysmetria-syndrome
#15
Stephanie Li, Kasondra Hartman, Krishna Surapaneni, Eric L Altschuler
We present a case of a patient with significant ataxia and dysmetria following a lacunar pontine infarction and review the literature on this uncommon syndrome. The patient had an excellent clinical course with near resolution of symptoms and signs in less than 3 weeks. We illustrate the patient's ataxia and dysmetria with videos and also use the videos to demonstrate and characterize the features of the dysmetria. Interestingly, the characteristics of the dysmetria appear to be different from those seen in patients with dysmetria arising from a cerebellar or thalamic lesion...
January 16, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28074593/microtubule-associated-protein-1b-novel-paraneoplastic-biomarker
#16
Avi Gadoth, Thomas J Kryzer, Jim Fryer, Andrew McKeon, Vanda A Lennon, Sean J Pittock
OBJECTIVE: To report the identification of microtubule-associated protein (MAP) 1B as the antigen of the previously described Purkinje cell cytoplasmic antibody type 2 (PCA-2) antibody, its frequency, and clinical, oncological, and serological associations. METHODS: Archival serum or cerebrospinal fluid (CSF) specimens were available from 96 of 118 consecutive PCA-2-IgG-seropositive patients identified during 1993-2016. The autoantigen, defined in mouse brain lysate by Western blot and mass spectrometry, was confirmed by dual immunohistochemical staining using commercial antibodies...
February 2017: Annals of Neurology
https://www.readbyqxmd.com/read/27928389/oculomotor-nerve-palsy-presented-with-isolated-unilateral-ptosis-and-minimal-upgaze-palsy
#17
Canan Togay Işıkay, Busra S Polat
This case with unilateral complete blepharoptosis and slight limitation of upgaze as ocular findings due to midbrain infarction represents an unusual form of intra-axial oculomotor nerve involvement. A 65-year-old man was admitted with acute unilateral ptosis of the left eyelid and gait ataxia. He had chronic hypertension in the medical history. The neurologic examination revealed that he had a complete ptosis of the left eyelid, slight limitation of elevation in the left eye, bilateral dysmetria, and gait ataxia...
April 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27815857/cerebellar-assessment-in-early-multiple-sclerosis
#18
Amandine Moroso, Aurélie Ruet, Mathilde Deloire, Delphine Lamargue-Hamel, Stéphanie Cubizolle, Julie Charré-Morin, Aurore Saubusse, Bruno Brochet
Cerebellar impairment is frequent and predictive of disability in multiple sclerosis (MS). The Nine-Hole Peg Test (NHPT) is commonly used to assess cerebellar symptoms despite its lack of specificity for cerebellar ataxia. Eye-tracking is a reliable test for identifying subtle cerebellar symptoms and could be used in clinical trials, including those involving early MS patients. To evaluate, by the use of eye-tracking, the accuracy of the NHPT in detecting subtle cerebellar symptoms in patients with clinically isolated syndrome with a high risk of conversion to MS (HR-CIS)...
November 4, 2016: Cerebellum
https://www.readbyqxmd.com/read/27783098/-degenerative-cerebellar-diseases-and-differential-diagnoses
#19
W Reith, S Roumia, P Dietrich
CLINICAL/METHODICAL ISSUE: Cerebellar syndromes result in distinct clinical symptoms, such as ataxia, dysarthria, dysmetria, intention tremor and eye movement disorders. STANDARD RADIOLOGICAL METHODS: In addition to the medical history and clinical examination, imaging is particularly important to differentiate other diseases, such as hydrocephalus and multi-infarct dementia from degenerative cerebellar diseases. Degenerative diseases with cerebellar involvement include Parkinson's disease, multiple system atrophy as well as other diseases including spinocerebellar ataxia...
November 2016: Der Radiologe
https://www.readbyqxmd.com/read/27658421/progressive-gait-ataxia-following-deep-brain-stimulation-for-essential-tremor-adverse-effect-or-lack-of-efficacy
#20
Martin M Reich, Joachim Brumberg, Nicolò G Pozzi, Giorgio Marotta, Jonas Roothans, Mattias Åström, Thomas Musacchio, Leonardo Lopiano, Michele Lanotte, Ralph Lehrke, Andreas K Buck, Jens Volkmann, Ioannis U Isaias
Thalamic deep brain stimulation is a mainstay treatment for severe and drug-refractory essential tremor, but postoperative management may be complicated in some patients by a progressive cerebellar syndrome including gait ataxia, dysmetria, worsening of intention tremor and dysarthria. Typically, this syndrome manifests several months after an initially effective therapy and necessitates frequent adjustments in stimulation parameters. There is an ongoing debate as to whether progressive ataxia reflects a delayed therapeutic failure due to disease progression or an adverse effect related to repeated increases of stimulation intensity...
September 21, 2016: Brain: a Journal of Neurology
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