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Cerebellar ataxia

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https://www.readbyqxmd.com/read/28102628/transient-symptomatic-worsening-by-atropine-in-opsoclonus-myoclonus-syndrome
#1
Hirotsugu Miyoshi, Ryuji Nakamura, Ayano Yamaga, Toshiaki Haraki, Toshimichi Yasuda, Hiroshi Hamada, Masashi Kawamoto
Opsoclonus-myoclonus syndrome (OMS) is characterized by abnormal eye and systemic involuntary movements, as well as cerebellar ataxia. Some sedatives and anesthetics worsen movements associated with OMS, while there is no known report of a negative effect of atropine. We report on sedation in two patients with OMS. Involuntary movements were transiently worsened after using atropine with midazolam or thiamylal in both, but were not seen when atropine was not used. We speculated that atropine has the potential to exacerbate involuntary movements in OMS due to vulnerability to this agent via unknown mechanisms...
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28099568/progressive-hearing-loss-and-cerebellar-ataxia-in-anti-ma2-associated-autoimmune-encephalitis
#2
Paulo Victor Sgobbi de Souza, Thiago Bortholin, Wladimir Bocca Vieira de Rezende Pinto, Adrialdo José Santos
No abstract text is available yet for this article.
January 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#3
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28093369/rehabilitation-of-the-pontine-ataxia-dysmetria-syndrome-a-case-presentation
#4
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 three weeks. We characterize and illustrate with videos of the ataxia and dysmetria. Interestingly, the characteristics of the dysmetria appear to be different than that seen in patients with dysmetria arising from a cerebellar or thalamic lesion. We discuss the likely neurophysiologic mechanisms responsible for the condition and recovery...
January 13, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28092914/paraneoplastic-cerebellar-degeneration-associated-with-pelvic-liposarcoma-a-rare-case-report
#5
Liang Zhou, Xin Wei, Nian-Wei Wu, Han-Mei Zhang, Bang-Hua Liao, Shu-Lian Chen, Hong Li, Yu-Chun Zhu, Kun-Jie Wang
Paraneoplastic cerebellar degeneration (PCD) is one of the most common paraneoplastic neurological syndromes characterized by the rapid development of severe cerebellar ataxia. In this report, a 23-year-old female with noticeable dizziness and gait instability was described. The enhanced CT scanning suggested the presence of a pelvic tumor. Then, PCD was established. Postoperative pathological result defined it as a liposarcoma (LS) with dedifferentiation. Interestingly, clinical symptoms disappeared after the surgical removal of the pelvic tumor...
January 17, 2017: Urologia Internationalis
https://www.readbyqxmd.com/read/28078310/polg2-deficiency-causes-adult-onset-syndromic-sensory-neuropathy-ataxia-and-parkinsonism
#6
Lionel Van Maldergem, Arnaud Besse, Boel De Paepe, Emma L Blakely, Vivek Appadurai, Margaret M Humble, Juliette Piard, Kate Craig, Langping He, Pierre Hella, François-Guillaume Debray, Jean-Jacques Martin, Marion Gaussen, Patrice Laloux, Giovanni Stevanin, Rudy Van Coster, Robert W Taylor, William C Copeland, Eric Mormont, Penelope E Bonnen
OBJECTIVE: Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe an extended Belgian pedigree where seven individuals presented with adult-onset cerebellar ataxia, axonal peripheral ataxic neuropathy, and tremor, in variable combination with parkinsonism, seizures, cognitive decline, and ophthalmoplegia. We sought to identify the underlying molecular etiology and characterize the mitochondrial pathophysiology of this neurological syndrome...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28074593/microtubule-associated-protein-map-1b-novel-paraneoplastic-biomarker-running-head-map-1b-igg-novel-paraneoplastic-biomarker
#7
Avi Gadoth, Thomas J Kryzer, Jim Fryer, Andrew McKeon, Vanda A Lennon, Sean J Pittock
To report the identification of microtubule associated protein (MAP)1B as the antigen of the previously described 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 1993-2016. The autoantigen, defined in mouse brain lysate by western blot and mass spectrometry, was confirmed by dual immunohistochemical staining using commercial antibodies...
January 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28074147/cerebellar-ataxia-and-sensory-ganglionopathy-associated-with-light-chain-myeloma
#8
Panagiotis Zis, Dasappaiah Ganesh Rao, Bart E Wagner, Lucinda Nicholson-Goult, Nigel Hoggard, Marios Hadjivassiliou
BACKGROUND: Cerebellar ataxia with sensory ganglionopathy is a rare neurological combination that can occur in some hereditary ataxias including mitochondrial diseases and in gluten sensitivity. Individually each condition can be a classic paraneoplastic neurological syndrome. We report a patient with this combination who was diagnosed with light-chain myeloma ten years after initial presentation. CASE PRESENTATION: A 65-year-old Caucasian lady was referred to our Ataxia Clinic because of a 6-year history of progressive unsteadiness and a 2-year history of slurred speech...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28072384/impact-of-cerebellar-atrophy-on-cortical-gray-matter-and-cerebellar-peduncles-as-assessed-by-voxel-based-morphometry-and-high-angular-resolution-diffusion-imaging
#9
Michael Dayan, G Olivito, M Molinari, Mara Cercignani, Marco Bozzali, M Leggio
In recent years the cerebellum has been attributed amore important role in higher-level functions than previously believed. We examined a cohort of patients suffering from cerebellar atrophy resulting in ataxia, with two main objectives: first to investigate which regions of the cerebrum were affected by the cerebellar degeneration, and second to assess whether diffusion magnetic resonance imaging (dMRI) metrics within the medial (MCP) and superior cerebellar peduncle (SCP) - namely fractional anisotropy (FA) and radial diffusivity (RD) - could be used as a biomarker in patients with this condition...
October 2016: Functional Neurology
https://www.readbyqxmd.com/read/28068987/effects-of-acetyl-dl-leucine-on-cerebellar-ataxia-alcat-trial-study-protocol-for-a-multicenter-multinational-randomized-double-blind-placebo-controlled-crossover-phase-iii-trial
#10
Katharina Feil, Christine Adrion, Julian Teufel, Sylvia Bösch, Jens Claassen, Ilaria Giordano, Holger Hengel, Heike Jacobi, Thomas Klockgether, Thomas Klopstock, Wolfgang Nachbauer, Ludger Schöls, Claudia Stendel, Ellen Uslar, Bart van de Warrenburg, Ingrid Berger, Ivonne Naumann, Otmar Bayer, Hans-Helge Müller, Ulrich Mansmann, Michael Strupp
BACKGROUND: Cerebellar ataxia (CA) is a frequent and often disabling condition that impairs motor functioning and impacts on quality of life (QoL). No medication has yet been proven effective for the symptomatic or even causative treatment of hereditary or non-hereditary, non-acquired CA. So far, the only treatment recommendation is physiotherapy. Therefore, new therapeutic options are needed. Based on three observational studies, the primary objective of the acetyl-DL-leucine on ataxia (ALCAT) trial is to examine the efficacy and tolerability of a symptomatic therapy with acetyl-DL-leucine compared to placebo on motor function measured by the Scale for the Assessment and Rating of Ataxia (SARA) in patients with CA...
January 10, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28063151/gad65-neurological-autoimmunity
#11
Andrew McKeon, Jennifer A Tracy
The glutamic acid decarboxylase 65-isoform (GAD65) antibody is a biomarker of autoimmune central nervous system (CNS) disorders and, more commonly, non-neurological autoimmune diseases. Type 1 diabetes, autoimmune thyroid disease, and pernicious anemia are the most frequent GAD65 autoimmune associations. One or more of these disorders coexists in approximately 70% of patients with GAD65 neurological autoimmunity. Neurological phenotypes have CNS localization and include limbic encephalitis, epilepsy, cerebellar ataxia, and stiff-person syndrome (SPS), among others...
January 7, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28056109/postural-ataxia-in-cerebellar-downbeat-nystagmus-its-relation-to-visual-proprioceptive-and-vestibular-signals-and-cerebellar-atrophy
#12
Christoph Helmchen, Jan-Birger Kirchhoff, Martin Göttlich, Andreas Sprenger
BACKGROUND: The cerebellum integrates proprioceptive, vestibular and visual signals for postural control. Cerebellar patients with downbeat nystagmus (DBN) complain of unsteadiness of stance and gait as well as blurred vision and oscillopsia. OBJECTIVES: The aim of this study was to elucidate the differential role of visual input, gaze eccentricity, vestibular and proprioceptive input on the postural stability in a large cohort of cerebellar patients with DBN, in comparison to healthy age-matched control subjects...
2017: PloS One
https://www.readbyqxmd.com/read/28052128/gba2-mutations-cause-a-marinesco-sj%C3%A3-gren-like-syndrome-genetic-and-biochemical-studies
#13
Kristoffer Haugarvoll, Stefan Johansson, Carlos E Rodriguez, Helge Boman, Bjørn Ivar Haukanes, Ove Bruland, Francisco Roque, Inge Jonassen, Maria Blomqvist, Wenche Telstad, Jan-Eric Månsson, Per Morten Knappskog, Laurence A Bindoff
BACKGROUND: With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families with an autosomal recessive cerebellar ataxia with cataracts and mental retardation. METHODS AND RESULTS: Single nucleotide polymorphism (SNP) chip analysis followed by Exome sequencing identified a 2 bp homozygous deletion in GBA2 in both families, c...
2017: PloS One
https://www.readbyqxmd.com/read/28051070/severe-neurodegenerative-disease-in-brothers-with-homozygous-mutation-in-polr1a
#14
Bülent Kara, Çiğdem Köroğlu, Karita Peltonen, Ruchama C Steinberg, Hülya Maraş Genç, Maarit Hölttä-Vuori, Ayşe Güven, Kristiina Kanerva, Tuğba Kotil, Seyhun Solakoğlu, You Zhou, Vesa M Olkkonen, Elina Ikonen, Marikki Laiho, Aslıhan Tolun
In two brothers born to consanguineous parents, we identified an unusual neurological disease that manifested with ataxia, psychomotor retardation, cerebellar and cerebral atrophy, and leukodystrophy. Via linkage analysis and exome sequencing, we identified homozygous c.2801C>T (p.(Ser934Leu)) in POLR1A (encoding RPA194, largest subunit of RNA polymerase I) and c.511C>T (p.(Arg171Trp)) in OSBPL11 (encoding oxysterol-binding protein-like protein 11). Although in silico analysis, histopathologic evidence and functional verification indicated that both variants were deleterious, segregation with the patient phenotype established that the POLR1A defect underlies the disease, as a clinically unaffected sister also was homozygous for the OSBPL11 variant...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28041799/eif2b-related-multisystem-disorder-in-two-sisters-with-atypical-presentations
#15
Jin Sook Lee, Sangmoon Lee, Murim Choi, Byung Chan Lim, Jieun Choi, Ki Joong Kim, Jung-Eun Cheon, In-One Kim, Jong-Hee Chae
BACKGROUND: Vanishing white matter disease (VWM) is a chronic progressive leukoencephalopathy that is characterized by cerebellar ataxia and spasticity, together with cystic degeneration of the cerebral white matter as evidenced by brain magnetic resonance imaging (MRI). Here, we report two sisters with EIF2B2 variants, who presented with delayed development and failure to thrive before 1 year of age, developed cataracts, and showed diffuse leukoencephalopathy. CASE PRESENTATION: The index case had a history of hepatomegaly and intermittent vomiting after upper respiratory infection at 11 months of age...
July 18, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28041618/pyogenic-ventriculitis-and-ventricular-empyema-associated-with-staphylococcus-pseudintermedius-in-a-puppy
#16
S A Headley, L G Pretto-Giordano, D F Nóbrega, C S Altrão, L A Villas-Boas, A A Alfieri, A P F R L Bracarense
A 40-day-old male, blue heeler puppy with hindlimb ataxia, nystagmus, apathy, motor incoordination and hyperaesthesia of the forelimbs died 3 days after the onset of clinical signs. Significant gross findings included cerebellar herniation, cerebral oedema and dilation of the third and right lateral cerebral ventricles due to the accumulation of a purulent exudate. Histopathological examination revealed pyogenic ventriculitis and purulent meningoencephalitis. Pure colonies of a coagulase-positive Staphylococcus were isolated from the purulent cerebral exudate...
December 29, 2016: Journal of Comparative Pathology
https://www.readbyqxmd.com/read/28040459/cerebellar-purkinje-cells-die-by-apoptosis-in-the-shaker-mutant-rat
#17
Nour S Erekat
Cerebellar Purkinje cells (PCs) die in humans leading to a variety of diseases including ataxia and essential tremor. The etiology underlying PC death is poorly understood. Shaker mutant rat is a unique animal model of progressive PC degeneration that is compartmentalized and of adult-onset. In shaker mutant rats, hereditary degeneration of at risk PCs occurs between 7 and 14 postnatal weeks of age as a natural phenotypic expression of the shaker mutation and at earlier or later ages depending upon experimental conditions in restricted anterior (ADC) and posterior (PDC) vermal degeneration compartments...
December 28, 2016: Brain Research
https://www.readbyqxmd.com/read/28039539/a-wearable-proprioceptive-stabilizer-for-rehabilitation-of-limb-and-gait-ataxia-in-hereditary-cerebellar-ataxias-a-pilot-open-labeled-study
#18
Luca Leonardi, Maria Gabriella Aceto, Christian Marcotulli, Giuseppe Arcuria, Mariano Serrao, Francesco Pierelli, Paolo Paone, Alessandro Filla, Alessandro Roca, Carlo Casali
The aim of this pilot study is to test the feasibility and effectiveness of a wearable proprioceptive stabilizer that emits focal mechanical vibrations in patients affected by hereditary cerebellar ataxias. Eleven adult patients with a confirmed genetic diagnosis of autosomal dominant spinocerebellar ataxia or Friedreich's ataxia were asked to wear an active device for 3 weeks. Assessments were performed at baseline, after the device use (T1), and 3 weeks after (T2). SARA, 9-HPT, PATA, 6MWT, and spatial and temporal gait parameters, measured with a BTS-G-Walk inertial sensor, were used as study endpoints...
December 31, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/28032667/caffeine-alleviates-progressive-motor-deficits-in-a-transgenic-mouse-model-of-spinocerebellar-ataxia
#19
Nélio Gonçalves, Ana T Simões, Rui S Prediger, Hirokazu Hirai, Rodrigo A Cunha, Luís Pereira de Almeida
OBJECTIVE: Machado-Joseph disease (MJD) is a neurodegenerative spinocerebellar ataxia (SCA) associated with an expanded polyglutamine tract within ataxin-3 for which there is currently no available therapy. We previously showed that caffeine, a non-selective adenosine receptor antagonist, delays the appearance of striatal damage resulting from expression of full-length mutant ataxin-3. Here we investigated the ability of caffeine to alleviate behavioral deficits and cerebellar neuropathology in transgenic mice with a severe ataxia resulting from expression of a truncated fragment of polyglutamine-expanded ataxin-3 in Purkinje cells...
December 29, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28028212/loss-of-the-golgin-gm130-causes-golgi-disruption-purkinje-neuron-loss-and-ataxia-in-mice
#20
Chunyi Liu, Mei Mei, Qiuling Li, Peristera Roboti, Qianqian Pang, Zhengzhou Ying, Fei Gao, Martin Lowe, Shilai Bao
The Golgi apparatus lies at the heart of the secretory pathway where it is required for secretory trafficking and cargo modification. Disruption of Golgi architecture and function has been widely observed in neurodegenerative disease, but whether Golgi dysfunction is causal with regard to the neurodegenerative process, or is simply a manifestation of neuronal death, remains unclear. Here we report that targeted loss of the golgin GM130 leads to a profound neurological phenotype in mice. Global KO of mouse GM130 results in developmental delay, severe ataxia, and postnatal death...
December 27, 2016: Proceedings of the National Academy of Sciences of the United States of America
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