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https://www.readbyqxmd.com/read/29352650/cryptococcus-gattii-genotype-vgiia-infection-imported-from-vancouver-island-to-japan
#1
Tsuyoshi Kitaura, Masamichi Takahashi, Takashi Umeyama, Nozomi Takeshita, Yuichi Katanami, Saho Takaya, Kei Yamamoto, Satoshi Kutsuna, Kayoko Hayakawa, Yasuyuki Kato, Takahiro Yamauchi, Yoshitaka Narita, Yoshitsugu Miyazaki, Norio Ohmagari
A 71-year-old Japanese man with travel history to the Vancouver Island, Canada was diagnosed the pulmonary and central nervous system infections caused by Cryptococcus gattii genotype VGIIa. This is the first imported case of Cryptococcus gattii genotype VGIIa infection from endemic area of North America to Japan. He was recovery with no residual neurological dysfunction by early resection of brain mass and antifungal therapy. Early surgical resection of cerebellar cryptococcoma may shorten the length of induction therapy with antifungal drugs...
January 15, 2018: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/29351857/psychometric-properties-of-outcome-measures-evaluating-decline-in-gait-in-cerebellar-ataxia-a-systematic-review
#2
REVIEW
Sarah C Milne, Anna Murphy, Nellie Georgiou-Karistianis, Eppie M Yiu, Martin B Delatycki, Louise A Corben
Cerebellar ataxia often results in impairment in ambulation secondary to gait pattern dysfunction and compensatory gait adjustments. Pharmaceutical and therapy-based interventions with potential benefit for gait in ataxia are starting to emerge, however evaluation of such interventions is hampered by the lack of outcome measures that are responsive, valid and reliable for measurement of gait decline in cerebellar ataxia. This systematic review aimed for the first time to evaluate the psychometric properties of gait and walking outcomes applicable to individuals with cerebellar ataxia...
January 4, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29348134/cerebral-mitochondrial-microangiopathy-leads-to-leukoencephalopathy-in-mitochondrial-neurogastrointestinal-encephalopathy
#3
L L Gramegna, A Pisano, C Testa, D N Manners, R D'Angelo, E Boschetti, F Giancola, L Pironi, L Caporali, M Capristo, M L Valentino, G Plazzi, C Casali, M T Dotti, G Cenacchi, M Hirano, C Giordano, P Parchi, R Rinaldi, R De Giorgio, R Lodi, V Carelli, C Tonon
BACKGROUND AND PURPOSE: Mitochondrial neurogastrointestinal encephalopathy is a rare disorder due to recessive mutations in the thymidine phosphorylase gene, encoding thymidine phosphorylase protein required for mitochondrial DNA replication. Clinical manifestations include gastrointestinal dysmotility and diffuse asymptomatic leukoencephalopathy. This study aimed to elucidate the mechanisms underlying brain leukoencephalopathy in patients with mitochondrial neurogastrointestinal encephalopathy by correlating multimodal neuroradiologic features to postmortem pathology...
January 18, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29346563/lc3-immunostaining-in-the-inferior-olivary-nuclei-of-cats-with-niemann-pick-disease-type-c1-is-associated-with-patterned-purkinje-cell-loss
#4
Brittney L Gurda, Jessica H Bagel, Samantha J Fisher, Mark L Schultz, Andrew P Lieberman, Peter Hand, Charles H Vite, Gary P Swain
The feline model of Niemann-Pick disease, type C1 (NPC1) recapitulates the clinical, neuropathological, and biochemical abnormalities present in children with NPC1. The hallmarks of disease are the lysosomal storage of unesterified cholesterol and multiple sphingolipids in neurons, and the spatial and temporal distribution of Purkinje cell death. In feline NPC1 brain, microtubule-associated protein 1 light chain 3 (LC3) accumulations, indicating autophagosomes, were found within axons and presynaptic terminals...
January 13, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29344472/status-epilepticus-as-an-unusual-manifestation-of-heat-stroke
#5
Won Gu Lee, So-Young Huh, Jin-Hyung Lee, Bong Goo Yoo, Meyung Kug Kim
Heat stroke (HS) is a medical emergency and life threatening condition, characterized by body temperature over 40°C. This can lead to dysfunction of multiple organs such as the heart, liver, kidneys, lungs, blood coagulation system, and central nervous system. Neurological complications include change in consciousness, cerebellar dysfunction, convulsions, aphasia, muscular weakness, and parkinsonism. Cerebellar syndrome is the most common neurological finding in HS. We report a case of HS presenting with status epilepticus, without any other neurological manifestations...
December 2017: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/29341299/autonomous-purkinje-cell-axonal-dystrophy-causes-ataxia-in-peroxisomal-multifunctional-protein-2-deficiency
#6
Stephanie De Munter, Dorien Bamps, Ana Rita Malheiro, Ritesh Kumar Baboota, Pedro Brites, Myriam Baes
BACKGROUND: Peroxisomes play a crucial role in normal neurodevelopment and in the maintenance of the adult brain. This depends largely on intact peroxisomal β-oxidation given the similarities in pathologies between peroxisome biogenesis disorders and deficiency of multifunctional protein-2 (MFP2), the central enzyme of this pathway. Recently, adult patients diagnosed with cerebellar ataxia were shown to have mild mutations in the MFP2 gene, hydroxy-steroid dehydrogenase (17 beta) type 4 (HSD17B4)...
January 17, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29339779/novel-recessive-mutations-in-msto1-cause-cerebellar-atrophy-with-pigmentary-retinopathy
#7
Kazuhiro Iwama, Toru Takaori, Ai Fukushima, Jun Tohyama, Akihiko Ishiyama, Chihiro Ohba, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Takeshi Mizuguchi, Naomichi Matsumoto
Misato 1, mitochondrial distribution and morphology regulator (encoded by the MSTO1 gene), is involved in mitochondrial distribution and morphology. Recently, MSTO1 mutations have been shown to cause clinical manifestations suggestive of mitochondrial dysfunction, such as muscle weakness, short stature, motor developmental delay, and cerebellar atrophy. Both autosomal dominant and recessive modes of inheritance have been suggested. We performed whole-exome sequencing in two unrelated patients showing cerebellar atrophy, intellectual disability, and pigmentary retinopathy...
January 16, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29326173/transcriptional-regulator-zeb2-is-essential-for-bergmann-glia-development
#8
Li He, Kun Yu, Fanghui Lu, Jiajia Wang, Laiman N Wu, Chuntao Zhao, Qianmei Li, Xianyao Zhou, Hanmin Liu, Dezhi Mu, Mei Xin, Mengsheng Qiu, Q Richard Lu
Bergmann glia facilitate granule neuron migration during development and maintain the cerebellar organization and functional integrity. At present, molecular control of Bergmann glia specification from cerebellar radial glia is not fully understood. In this report, we show that Zeb2 (a.k.a. Sip1 or Zfhx1b), a Mowat-Wilson-syndrome-associated transcriptional regulator, is highly expressed in Bergmann glia, but hardly detectable in astrocytes in the cerebellum. The mice lacking Zeb2 in cerebellar radial glia exhibit severe deficits in Bergmann glia specification, and develop cerebellar cortical lamination dysgenesis and locomotion defects...
January 11, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29325610/autosomal-dominant-cerebellar-ataxias
#9
Andrew Mundwiler, Vikram G Shakkottai
Spinocerebellar ataxias (SCAs) are a genetically diverse group of dominantly inherited disorders that share clinical features that result from dysfunction and degeneration of the cerebellum and its associated pathways. Although nearly 40 genes are currently recognized to result in SCA, shared mechanisms for disease pathogenesis exist among subsets of the SCAs. The most common SCAs result from a glutamine-encoding CAG repeat in the respective disease genes. This chapter discusses the varied genetic etiology of SCA and attempts to categorize these disorders based on shared mechanisms of disease...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29323417/loss-of-ethanol-inhibition-of-nmdar-mediated-currents-and-plasticity-of-cerebellar-synapses-in-mice-expressing-the-glun1-f639a-subunit
#10
Paula A Zamudio-Bulcock, Gregg E Homanics, John J Woodward
BACKGROUND: Glutamatergic N-methyl-D-aspartate receptors (NMDARs) are well known for their sensitivity to ethanol inhibition. However, the specific manner in which ethanol inhibits channel activity and how such inhibition affects neurotransmission, and ultimately behavior, remain unclear. Replacement of phenylalanine 639 with alanine (F639A) in the GluN1 subunit reduces ethanol inhibition of recombinant NMDA receptors. Mice expressing this subunit show reduced ethanol-induced anxiolysis, blunted locomotor stimulation following low dose ethanol administration and faster recovery of motor function after moderate doses of ethanol suggesting that cerebellar dysfunction may contribute to some of these behaviors...
January 11, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29317520/atm-directs-dna-damage-responses-and-proteostasis-via-genetically-separable-pathways
#11
Ji-Hoon Lee, Michael R Mand, Chung-Hsuan Kao, Yi Zhou, Seung W Ryu, Alicia L Richards, Joshua J Coon, Tanya T Paull
The protein kinase ATM is a master regulator of the DNA damage response but also responds directly to oxidative stress. Loss of ATM causes ataxia telangiectasia, a neurodegenerative disorder with pleiotropic symptoms that include cerebellar dysfunction, cancer, diabetes, and premature aging. We genetically separated the activation of ATM by DNA damage from that by oxidative stress using separation-of-function mutations. We found that deficient activation of ATM by the Mre11-Rad50-Nbs1 complex and DNA double-strand breaks resulted in loss of cell viability, checkpoint activation, and DNA end resection in response to DNA damage...
January 9, 2018: Science Signaling
https://www.readbyqxmd.com/read/29310369/mitochondrial-mutations-in-12s-rrna-and-16s-rrna-presenting-as-chronic-progressive-external-ophthalmoplegia-cpeo-plus-a-case-report
#12
Zhan-Yun Lv, Xue-Mei Xu, Xiao-Fu Cao, Qian Wang, Da-Fang Sun, Wen-Jing Tian, Yan Yang, Yu-Zhong Wang, Yan-Lei Hao
RATIONALE: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus." PATIENT CONCERNS: We report a 48-year-old woman exhibiting limb weakness, ptosis, ophthalmoparesis, and cerebellar dysfunctions...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29304807/laquinimod-ameliorates-excitotoxic-damage-by-regulating-glutamate-re-uptake
#13
Antonietta Gentile, Alessandra Musella, Francesca De Vito, Diego Fresegna, Silvia Bullitta, Francesca Romana Rizzo, Diego Centonze, Georgia Mandolesi
BACKGROUND: Laquinimod is an immunomodulatory drug under clinical investigation for the treatment of the progressive form of multiple sclerosis (MS) with both anti-inflammatory and neuroprotective effects. Excitotoxicity, a prominent pathophysiological feature of MS and of its animal model, experimental autoimmune encephalomyelitis (EAE), involves glutamate transporter (GluT) dysfunction in glial cells. The aim of this study was to assess whether laquinimod might exert direct neuroprotective effects by interfering with the mechanisms of excitotoxicity linked to GluT function impairments in EAE...
January 5, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29304748/revisiting-the-link-between-cognitive-decline-and-masticatory-dysfunction
#14
Chia-Shu Lin
Age-related decline in cognitive functions and dementia are major challenges in geriatric healthcare. Accumulating evidence from clinical, epidemiological and animal research suggests that tooth loss may be a risk factor for the decline of cognitive functions. This issue highlights the role of the brain-stomatognathic axis in geriatric medicine. Whether input from the stomatognathic apparatus can affect the brain remains an open debate. By revisiting the evidence published in the past five years, we argue that the hypothesis regarding the association between cognitive decline and masticatory dysfunction should be carefully interpreted...
January 5, 2018: BMC Geriatrics
https://www.readbyqxmd.com/read/29301026/cerebellar-transcranial-direct-current-stimulation-improves-procedural-learning-in-nonclinical-psychosis-a-double-blind-crossover-study
#15
Tina Gupta, Derek J Dean, Nicholas J Kelley, Jessica A Bernard, Ivanka Ristanovic, Vijay A Mittal
The present double-blind crossover study examines the effects of cerebellar transcranial direct current stimulation (tDCS) in controls and in an analogue population to psychosis: individuals reporting elevated symptoms of nonclinical psychosis (NCP). A total of 18 controls and 24 NCP individuals were randomized into conditions consisting of 25 minutes of anodal (active) or sham cerebellar tDCS. Following this, both groups completed a pursuit rotor task designed to measure procedural learning performance. Participants then returned 1-week later and received the corresponding condition (either active or sham) and repeated the pursuit rotor task...
December 30, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29288088/telangiectasias-in-ataxia-telangiectasia-clinical-significance-role-of-atm-deficiency-and-potential-pathophysiological-mechanisms
#16
M H D Schoenaker, N J H Van Os, M Van der Flier, M Van Deuren, M M Seyger, A M R Taylor, C M R Weemaes, M A A P Willemsen
Ataxia Telangiectasia (AT) is named after the two key clinical features that characterize its classical phenotype, namely a progressive cerebellar gait disorder (ataxia) and vascular anomalies (telangiectasias) visible in the conjunctivae and skin. AT is an autosomal recessively inherited disorder, caused by mutations in the ATM gene that encodes the ATM protein. While the ataxia is subject of many publications, the telangiectasias are under emphasised. We here describe the observation that the absence or presence of ATM protein and the level of residual ATM kinase activity are related to the occurrence of telangiectasias and describe the clinical consequences of these vascular malformations...
December 26, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29279305/friedreich-and-dominant-ataxias-quantitative-differences-in-cerebellar-dysfunction-measurements
#17
Audrey Tanguy Melac, Caterina Mariotti, Antoine Filipovic Pierucci, Paola Giunti, Javier Arpa, Sylvia Boesch, Thomas Klopstock, Jennifer Müller Vom Hagen, Thomas Klockgether, Katrin Bürk, Jörg B Schulz, Kathrin Reetz, Massimo Pandolfo, Alexandra Durr, Sophie Tezenas du Montcel
BACKGROUND: Sensitive outcome measures for clinical trials on cerebellar ataxias are lacking. Most cerebellar ataxias progress very slowly and quantitative measurements are required to evaluate cerebellar dysfunction. METHODS: We evaluated two scales for rating cerebellar ataxias: the Composite Cerebellar Functional Severity (CCFS) Scale and Scale for the Assessment and Rating of Ataxia (SARA), in patients with spinocerebellar ataxia (SCA) and controls. We evaluated these scales for different diseases and investigated the factors governing the scores obtained...
December 26, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29277914/synaptic-localization-of-the-sumoylation-regulating-protease-senp5-in-the-adult-mouse-brain
#18
Hiroki Akiyama, Kazuhiko Nakadate, Shin-Ichi Sakakibara
Covalent conjugation of small ubiquitin-like modifiers (SUMOs) or SUMOylation is a reversible post-translational modification that regulates the stability and function of target proteins. SUMOs are removed from substrate proteins by sentrin/SUMO-specific proteases (SENPs). Numerous studies have implicated SUMOylation in various physiological and pathological processes in neurons. To understand the functional roles of SUMOylation, it is necessary to determine the distribution of enzymes regulating SUMO conjugation and deconjugation; yet, the localization of SENPs has not been described in detail in intact brain tissue...
December 26, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/29259026/early-vglut1-specific-parallel-fiber-synaptic-deficits-and-dysregulated-cerebellar-circuit-in-the-kiko-mouse-model-of-friedreich-ataxia
#19
Hong Lin, Jordi Magrane, Elisia M Clark, Sarah M Halawani, Nathan Warren, Amy Rattelle, David R Lynch
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder with progressive ataxia that affects both the peripheral and central nervous system (CNS). While later CNS neuropathology involves loss of large principal neurons and glutamatergic and GABAergic synaptic terminals in the cerebellar dentate nucleus, early pathological changes in FRDA cerebellum remain largely uncharacterized. Here, we report early cerebellar VGLUT1 (SLC17A7)-specific parallel fiber (PF) synaptic deficits and dysregulated cerebellar circuit in the frataxin knock-in/knockout (KIKO) FRDA mouse model...
December 19, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29249681/more-than-ataxia-movement-disorders-in-ataxia-telangiectasia
#20
REVIEW
Hélio Afonso Ghizoni Teive, Carlos Henrique Ferreira Camargo, Renato Puppi Munhoz
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease caused by mutations in the ATM gene with progressive neurological dysfunction, multisystem abnormalities and cancer predisposition. Classically, AT is associated with cerebellar ataxia, oculocutaneous telangiectasia and oculomotor apraxia. The aim of this review is to describe the movement disorders observed in patients with AT. Movement disorders in AT patients described in the literature are reviewed. The selected articles were analyzed with a focus on clinical presentation, presence of movement disorders, and atypical cases or variants of the syndrome...
December 12, 2017: Parkinsonism & related Disorders
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