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Cerebellar dysfunction

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https://www.readbyqxmd.com/read/28934619/distinct-brain-metabolic-patterns-separately-associated-with-cognition-motor-function-and-aging-in-parkinson-s-disease-dementia
#1
Ji Hyun Ko, Audrey Katako, Maram Aljuaid, Andrew L Goertzen, Andrew Borys, Douglas E Hobson, Seok Min Kim, Chong Sik Lee
We explored whether patients with Parkinson's disease dementia (PDD) show a distinct spatial metabolic pattern that characterizes cognitive deficits in addition to motor dysfunction. Eighteen patients with PDD underwent 3 separate positron emission tomography sessions with [(18)F]fluorodeoxyglucose (for glucose metabolism), fluorinated N-3-fluoropropyl-2-beta-carboxymethoxy-3-beta-(4-iodophenyl) nortropane (for dopamine transporter density) and Pittsburgh compound-B (for beta-amyloid load). We confirmed in PDD versus normal controls, overall hypometabolism in the posterior and prefrontal brain regions accompanied with hypermetabolism in subcortical structures and the cerebellar vermis...
August 31, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28934387/mutations-in-tgm6-induce-the-unfolded-protein-response-in-sca35
#2
Debasmita Tripathy, Beatrice Vignoli, Nandini Ramesh, Maria Jose Polanco, Marie Coutelier, Christopher D Stephen, Marco Canossa, Marie-Lorraine Monin, Pascale Aeschlimann, Shannon Turberville, Daniel Aeschlimann, Jeremy D Schmahmann, Marios Hadjivassiliou, Alexandra Durr, Udai B Pandey, Maria Pennuto, Manuela Basso
Spinocerebellar ataxia type 35 (SCA35) is a rare autosomal-dominant neurodegenerative disease caused by mutations in the TGM6 gene, which codes for transglutaminase 6 (TG6). Mutations in TG6 induce cerebellar degeneration by an unknown mechanism. We identified seven patients bearing new mutations in TGM6. To gain insights into the molecular basis of mutant TG6-induced neurotoxicity, we analyzed all the seven new TG6 mutants and the five TG6 mutants previously linked to SCA35. We found that the wild-type (TG6-WT) protein mainly localized to the nucleus and perinuclear area, whereas five TG6 mutations showed nuclear depletion, increased accumulation in the perinuclear area, insolubility and loss of enzymatic function...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28933672/cognitive-impairment-and-the-regional-distribution-of-cerebellar-lesions-in-multiple-sclerosis
#3
Sean M Tobyne, Wilson B Ochoa, J Daniel Bireley, Victoria Mj Smith, Jeroen Jg Geurts, Jeremy D Schmahmann, Eric C Klawiter
BACKGROUND: Cerebellar lesions are often reported in relapsing-remitting multiple sclerosis (RRMS) and have been associated with impaired motor function and cognitive status. However, prior research has primarily focused on summary measures of cerebellar involvement (e.g. total lesion load, gray/white matter volume) and not on the effect of lesion load within specific regions of cerebellar white matter. OBJECTIVE: Spatially map the probability of cerebellar white matter lesion (CWML) occurrence in RRMS and explore the relationship between cognitive impairment and lesion (CWML) location within the cerebellum...
September 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28931039/abnormalities-in-substance-p-neurokinin-1-receptor-binding-in-key-brainstem-nuclei-in-sudden-infant-death-syndrome-related-to-prematurity-and-sex
#4
Fiona M Bright, Robert Vink, Roger W Byard, Jhodie R Duncan, Henry F Krous, David S Paterson
Sudden infant death syndrome (SIDS) involves failure of arousal to potentially life threatening events, including hypoxia, during sleep. While neuronal dysfunction and abnormalities in neurotransmitter systems within the medulla oblongata have been implicated, the specific pathways associated with autonomic and cardiorespiratory failure are unknown. The neuropeptide substance P (SP) and its tachykinin neurokinin-1 receptor (NK1R) have been shown to play an integral role in the modulation of homeostatic function in the medulla, including regulation of respiratory rhythm generation, integration of cardiovascular control, and modulation of the baroreceptor reflex and mediation of the chemoreceptor reflex in response to hypoxia...
2017: PloS One
https://www.readbyqxmd.com/read/28911048/what-can-different-motor-circuits-tell-us-about-psychosis-an-rdoc-perspective
#5
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/28894988/how-tandem-gait-stumbled-into-the-neurological-exam-a-review
#6
Jason Margolesky, Carlos Singer
Tandem gait testing is an integral part of the neurological exam. It is informative in a wide variety of disorders ranging from cerebellar disease to vestibular and peripheral neuropathies, parkinsonism, and other neurodegenerative conditions. We discuss the history and development of tandem gait testing as well as its technique, utility, and limitations in the assessment of neurological conditions. Tandem gait has emerged as a tool in the assessment of cerebellar disease, Huntington disease, idiopathic Parkinson's disease, atypical parkinsonism, peripheral neuropathies, and vestibulopathies...
September 11, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28894610/maturation-refinement-and-serotonergic-modulation-of-cerebellar-cortical-circuits-in-normal-development-and-in-murine-models-of-autism
#7
REVIEW
Eriola Hoxha, Pellegrino Lippiello, Bibiana Scelfo, Filippo Tempia, Mirella Ghirardi, Maria Concetta Miniaci
The formation of the complex cerebellar cortical circuits follows different phases, with initial synaptogenesis and subsequent processes of refinement guided by a variety of mechanisms. The regularity of the cellular and synaptic organization of the cerebellar cortex allowed detailed studies of the structural plasticity mechanisms underlying the formation of new synapses and retraction of redundant ones. For the attainment of the monoinnervation of the Purkinje cell by a single climbing fiber, several signals are involved, including electrical activity, contact signals, homosynaptic and heterosynaptic interaction, calcium transients, postsynaptic receptors, and transduction pathways...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28893651/obstructive-sleep-apnea-is-associated-with-altered-midbrain-chemical-concentrations
#8
Paul M Macey, Manoj K Sarma, Janani P Prasad, Jennifer A Ogren, Ravi Aysola, Ronald M Harper, M Albert Thomas
Obstructive sleep apnea (OSA) is accompanied by altered structure and function in cortical, limbic, brainstem, and cerebellar regions. The midbrain is relatively unexamined, but contains many integrative nuclei which mediate physiological functions that are disrupted in OSA. We therefore assessed the chemistry of the midbrain in OSA in this exploratory study. We used a recently-developed accelerated 2D magnetic resonance spectroscopy (2D-MRS) technique, compressed sensing-based 4D echo-planar J-resolved spectroscopic imaging (4D-EP-JRESI), to measure metabolites in the midbrain of 14 OSA (mean age±SD:54...
September 8, 2017: Neuroscience
https://www.readbyqxmd.com/read/28889733/garcinia-kola-seeds-may-prevent-cognitive-and-motor-dysfunctions-in-a-type-1-diabetes-mellitus-rat-model-partly-by-mitigating-neuroinflammation
#9
Paul F Seke Etet, Mohammed Farahna, Gwiria M H Satti, Yahia M Bushara, Ahmed El-Tahir, Muaawia A Hamza, Sayed Y Osman, Ambrose C Dibia, Lorella Vecchio
Background We reported recently that extracts of seeds of Garcinia kola, a plant with established hypoglycemic properties, prevented the loss of inflammation-sensible neuronal populations like Purkinje cells in a rat model of type 1 diabetes mellitus (T1DM). Here, we assessed G. kola extract ability to prevent the early cognitive and motor dysfunctions observed in this model. Methods Rats made diabetic by single injection of streptozotocin were treated daily with either vehicle solution (diabetic control group), insulin, or G...
April 15, 2017: Journal of Complementary & Integrative Medicine
https://www.readbyqxmd.com/read/28878050/antibody-associated-cns-syndromes-without-signs-of-inflammation-in-the-elderly
#10
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...
September 6, 2017: Neurology
https://www.readbyqxmd.com/read/28875427/epileptic-seizures-in-nonalcoholic-wernicke-s-encephalopathy-a-case-report-and-literature-review
#11
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/28863007/intraoperative-neurophysiologic-monitoring-for-prediction-of-postoperative-neurological-improvement-in-a-child-with-chiari-type-i-malformation
#12
Yukari Kawasaki, Susumu Uchida, Kouhei Onishi, Masako Toyokuni, Kazuo Okanari, Minoru Fujiki
INTRODUCTION: Although many surgical treatment strategies for Chiari malformation type I (CM-I) have been reported, the most appropriate surgical technique remains controversial. It is wholly ascribable to the complicacy of pathological condition in CM-I. Recently, intraoperative neurophysiologic monitoring (INM) is becoming prevalent in spinal surgery. Indeed, motor-evoked potentials (MEPs) monitoring and somatosensory-evoked potentials (SSEPs) monitoring are standard tools to minimize the risk of neurologic injury and postoperative deficits...
August 31, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28852709/ataxia-pancytopenia-syndrome-with-samd9l-mutations
#13
Sorina Gorcenco, Jonna Komulainen-Ebrahim, Karin Nordborg, Maria Suo-Palosaari, Sten Andréasson, Johanna Krüger, Christer Nilsson, Ulrika Kjellström, Elisa Rahikkala, Dominik Turkiewicz, Mikael Karlberg, Lars Nilsson, Jörg Cammenga, Ulf Tedgård, Josef Davidsson, Johanna Uusimaa, Andreas Puschmann
OBJECTIVE: We describe the neurologic, neuroradiologic, and ophthalmologic phenotype of 1 Swedish and 1 Finnish family with autosomal dominant ataxia-pancytopenia (ATXPC) syndrome and SAMD9L mutations. METHODS: Members of these families with germline SAMD9L c.2956C>T, p.Arg986Cys, or c.2672T>C, p.Ile891Thr mutations underwent structured interviews and neurologic and ophthalmologic examinations. Neuroimaging was performed, and medical records were reviewed...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28831921/in-silico-studies-in-drug-research-against-neurodegenerative-diseases
#14
Farahnaz Rezaei Makhouri, Jahan B Ghasemi
Neurodegenerative diseases such as Alzheimer's disease (AD), progressive neurodegenerative forms of Huntington's disease, Parkinson's disease (PD), amyotrophic lateral sclerosis, spinal cerebellar ataxias, and spinal and bulbar muscular atrophy are described by slow and selective dysfunction and degeneration of neurons and axons in the central nervous system (CNS). Computer-aided or in silico design methods have matured into powerful tools for reducing the number of ligands that should be screened in experimental assays...
August 22, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28827919/cerebellar-molecular-and-cellular-characterization-in-rat-models-of-alzheimer-s-disease-neuroprotective-mechanisms-of-garcinia-biflavonoid-complex
#15
Olayemi Joseph Olajide, Anita Temi Ugbosanmi, Bernard Ufuoma Enaibe, Kehinde Yomi Ogunrinola, Susan Folashade Lewu, Nnaemeka Tobechukwu Asogwa, Tosan Akapa, Aminu Imam, Abdulmumin Ibrahim, Ismail Temitayo Gbadamosi, Emmanuel Olusola Yawson
BACKGROUND: Recent evidences suggest that cerebellar degeneration may be associated with the development of Alzheimer's disease (AD). However, previous reports were mainly observational, lacking substantial characterization of cellular and molecular cerebellar features during AD progression. PURPOSE: This study is aimed at characterizing the cerebellum in rat models of AD and assessing the corresponding neuroprotective mechanisms of Garcinia biflavonoid complex (GBc)...
May 2017: Annals of Neurosciences
https://www.readbyqxmd.com/read/28814870/abnormal-intrinsic-functional-hubs-in-alcohol-dependence-evidence-from-a-voxelwise-degree-centrality-analysis
#16
Xiaoping Luo, Linghong Guo, Xi-Jian Dai, Qinglai Wang, Wenzhong Zhu, Xinjun Miao, Honghan Gong
OBJECTIVE: To explore the abnormal intrinsic functional hubs in alcohol dependence using voxelwise degree centrality analysis approach, and their relationships with clinical features. MATERIALS AND METHODS: Twenty-four male alcohol dependence subjects free of medicine (mean age, 50.21±9.62 years) and 24 age- and education-matched male healthy controls (mean age, 50.29±8.92 years) were recruited. The alcohol use disorders identification test and the severity of alcohol dependence questionnaire (SADQ) were administered to assess the severity of alcohol craving...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28805573/nonmotor-features-in-atypical-parkinsonism
#17
Kailash P Bhatia, Maria Stamelou
Atypical parkinsonism (AP) comprises mainly multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD), which are distinct pathological entities, presenting with a wide phenotypic spectrum. The classic syndromes are now called MSA-parkinsonism (MSA-P), MSA-cerebellar type (MSA-C), Richardson's syndrome, and corticobasal syndrome. Nonmotor features in AP have been recognized almost since the initial description of these disorders; however, research has been limited...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28801086/slowly-progressive-leukodystrophy-in-an-adolescent-male-with-phosphoglycerate-kinase-deficiency
#18
Shimpei Baba, Ayumi Kobayashi, Haruna Yokoyama, Kengo Moriyama, Ayako Kashimada, Jun Oyama, Ayako Owada, Shoichi Oyama, Tomohiro Morio, Masatoshi Takagi
We report the case of an 18-year-old man with a phosphoglycerate kinase (PGK) deficiency who had slowly progressive leukodystrophy during adolescence. The patient had a history of severe neonatal jaundice, hemolytic crisis with rhabdomyolysis triggered by febrile viral infections, dysarthria, and intellectual disability during early childhood. Clumsiness in walking and writing became obvious at ∼10years of age. Evaluations performed by us on the 18-year-old patient confirmed the presence of pyramidal tract signs, increased muscle tone, and generalized dystonia...
August 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28799873/-birdlime-technique-using-tachosil-tissue-sealing-sheet-soaked-with-fibrin-glue-for-sutureless-vessel-transposition-in-microvascular-decompression-operative-technique-and-nuances
#19
Naoki Otani, Terushige Toyooka, Kazuya Fujii, Kosuke Kumagai, Satoru Takeuchi, Arata Tomiyama, Yasuaki Nakao, Takuji Yamamoto, Kojiro Wada, Kentaro Mori
OBJECTIVE Microvascular decompression (MVD) is effective for the treatment of trigeminal neuralgia (TN), hemifacial spasm (HFS), and glossopharyngeal neuralgia. The transposition technique is the standard procedure to avoid adhesions and granuloma around the decompression site but is more complex and difficult to perform than the interposition technique. The authors describe a simple and safe MVD transposition procedure they call the "birdlime" technique, which uses a tissue glue-coated collagen sponge soaked with fibrin glue, and the results of this technique...
August 11, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28781913/nursing-review-section-of-surgical-neurology-international-evaluation-of-cervical-disc-disease-and-when-surgery-is-warranted
#20
REVIEW
Nancy E Epstein, Renee D Hollingsworth
BACKGROUND: Patients with cervical disc disease may present with radiculopathy (root compression), myelopathy (cord compression), or myeloradiculopathy. These complaints must be correlated with x-ray, magnetic resonance (MR) imaging, and computed tomographic (CT) scans. Although most patients can be managed nonsurgically, those with significant neurological deficits and larger disc herniations may require surgery. METHODS: The symptoms of cervical radiculopathy include pain radiating down one or both arms, while myelopathy may result in more diffuse numbness tingling or weakness in the upper and/or lower extremities...
2017: Surgical Neurology International
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