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https://www.readbyqxmd.com/read/27929719/nad-the-convergence-of-dna-repair-and-mitophagy
#1
Evandro F Fang, Vilhelm A Bohr
ATM is a 350 kDa serine/threonine kinase best known for its role in DNA repair and multiple cellular homeostasis pathways. Mutation in ATM causes the disease ataxia telangiectasia (A-T) with clinical features including ataxia, severe cerebellar atrophy and Purkinje cell loss. In a cross-species study, using primary rat neurons, the roundworm C. elegans, and a mouse model of A-T, we showed that loss of ATM induces mitochondrial dysfunction and compromised mitophagy due to NAD(+) insufficiency. Remarkably, NAD(+) repletion mitigates both the DNA repair defect and mitochondrial dysfunction in ATM-deficient neurons...
December 8, 2016: Autophagy
https://www.readbyqxmd.com/read/27914727/beat-gestures-and-postural-control-in-youth-at-ultrahigh-risk-for-psychosis
#2
K Juston Osborne, Jessica A Bernard, Tina Gupta, Derek J Dean, Zachary Millman, Teresa Vargas, Ivanka Ristanovic, Jason Schiffman, Vijay A Mittal
Beat gestures, rhythmic hand movements that co-occur with speech, appear to be uniquely associated with the cerebellum in healthy individuals. This behavior may also have relevance for psychosis-risk youth, a group characterized by cerebellar dysfunction. This study examined beat gesture frequency and postural sway (a sensitive index of cerebellar functioning) in youth at ultrahigh risk (UHR) for psychosis. Results indicated that decreased beat gesture frequency, but not self-regulatory movement, is associated with elevated postural sway, suggesting that beat gestures may be an important biomarker in this critical population...
November 30, 2016: Schizophrenia Research
https://www.readbyqxmd.com/read/27896316/compound-heterozygous-intermediate-mjd-alleles-cause-cerebellar-ataxia-with-sensory-neuropathy
#3
Yuji Takahashi, Masahiro Kanai, Tomoya Taminato, Shoko Watanabe, Chihiro Matsumoto, Toshiyuki Araki, Tomoko Okamoto, Masafumi Ogawa, Miho Murata
Spinocerebellar degeneration (SCD) is a group of disorders characterized by progressive ataxia caused by dysfunction and atrophy of the cerebellum or its projections. Approximately one-third of SCD cases are familial SCD, the majority of which are attributed to CAG triplet repeat expansions including spinocerebellar ataxia (SCA)1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA6, SCA8, SCA12, SCA17, and dentate-rubro-pallido-luysian atrophy (DRPLA). The triplet repeat number of the alleles representing complete penetrance varies among diseases...
February 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27893847/a2a-adenosine-receptor-antagonism-reverts-the-blood-brain-barrier-dysfunction-induced-by-sleep-restriction
#4
Gabriela Hurtado-Alvarado, Emilio Domínguez-Salazar, Javier Velázquez-Moctezuma, Beatriz Gómez-González
Chronic sleep restriction induces blood-brain barrier disruption and increases pro-inflammatory mediators in rodents. Those inflammatory mediators may modulate the blood-brain barrier and constitute a link between sleep loss and blood-brain barrier physiology. We propose that adenosine action on its A2A receptor may be modulating the blood-brain barrier dynamics in sleep-restricted rats. We administrated a selective A2A adenosine receptor antagonist (SCH58261) in sleep-restricted rats at the 10th day of sleep restriction and evaluated the blood-brain barrier permeability to dextrans coupled to fluorescein (FITC-dextrans) and Evans blue...
2016: PloS One
https://www.readbyqxmd.com/read/27871157/synthetic-cannabinoid-induced-immunosuppression-augments-cerebellar-dysfunction-in-tetanus-toxin-treated-mice
#5
Jaesuk Yun, Sun Mi Gu, Tac-Hyung Lee, Yun Jeong Song, Seonhwa Seong, Young-Hoon Kim, Hye Jin Cha, Kyoung Moon Han, Jisoon Shin, Hokyung Oh, Kikyung Jung, Chiyoung Ahn, Hye-Kyung Park, Hyung Soo Kim
Synthetic cannabinoids are one of most abused new psychoactive substances. The recreational use of abused drug has aroused serious concerns about the consequences of these drugs on infection. However, the effects of synthetic cannabinoid on resistance to tetanus toxin are not fully understood yet. In the present study, we aimed to determine if the administration of synthetic cannabinoids increase the susceptibility to tetanus toxin-induced motor behavioral deficit and functional changes in cerebellar neurons in mice...
November 25, 2016: Biomolecules & Therapeutics
https://www.readbyqxmd.com/read/27869457/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy-adca-dn-associated-with-progressive-cognitive-and-behavioral-deterioration
#6
Lisa A S Walker, Pierre Bourque, Andra M Smith, Jodi Warman Chardon
Objective: Autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) is an emerging syndrome caused by mutations in the C-terminus end of the TS domain of the DNMT1 gene. ADCA-DN is also associated with sensorimotor polyneuropathy, extrapyramidal, and dysautonomic signs, as well as dementia. Little has been reported about the progressive cognitive impairment associated with ADCA-DN. Our objective is to provide a detailed characterization of the cognitive profile of ADCA-DN. Method: Three members of a kindred with ADCA-DN underwent comprehensive neuropsychological testing and neuroimaging...
November 21, 2016: Neuropsychology
https://www.readbyqxmd.com/read/27862279/pet-and-mri-detection-of-early-and-progressive-neurodegeneration-in-spinocerebellar-ataxia-type-36
#7
Pablo Aguiar, Julio Pardo, Manuel Arias, Beatriz Quintáns, Montse Fernández-Prieto, Rocío Martínez-Regueiro, José-Manuel Pumar, Jesús Silva-Rodríguez, Álvaro Ruibal, María-Jesús Sobrido, Julia Cortés
BACKGROUND: The spinocerebellar ataxias (SCAs) form a clinically, genetically, and pathological heterogeneous group of autosomal-dominant degenerative diseases. In particular, SCA36 is characterized by a late-onset, slowly progressive cerebellar syndrome typically associated with sensorineural hearing loss. This study was aimed at analyzing the neurodegenerative process underlying SCA36 through fluorodeoxyglucose positron emission tomography (FDG-PET) and MRI scans. METHODS: Twenty SCA36 patients underwent a study consisting of FDG-PET and MRI scans...
November 10, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27861346/unusual-phenotype-of-pathologically-confirmed-progressive-supranuclear-palsy-with-autonomic-dysfunction-and-cerebellar-ataxia-case-report
#8
Katerina Mensikova, Lucie Tuckova, Jiri Ehrmann, Petr Kanovsky
BACKGROUND: Based on the results of recent multicenter clinical-pathological studies, it seems that the clinical heterogeneity of progressive supranuclear palsy (PSP) is much broader than previously thought. We will report 2 cases of patients with unusual manifestation of pathologically confirmed PSP. METHODS: Two female patients were diagnosed with the parkinsonian phenotype of multiple system atrophy (MSAP) according to current clinical diagnostic criteria at the ages of 55 and 60 years, respectively...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27859565/anhidrosis-in-multiple-system-atrophy-involves-pre-and-postganglionic-sudomotor-dysfunction
#9
Elizabeth A Coon, Robert D Fealey, David M Sletten, Jay N Mandrekar, Eduardo E Benarroch, Paola Sandroni, Phillip A Low, Wolfgang Singer
BACKGROUND: The objective of this study was to characterize the degree, pattern, lesion site, and temporal evolution of sudomotor dysfunction in multiple system atrophy (MSA) and to evaluate differences by parkinsonian (MSA-parkinsonism) and cerebellar (MSA-cerebellar) subtypes. METHODS: All cases of MSA evaluated at Mayo Clinic Rochester between 2005 and 2010 with postganglionic sudomotor testing and thermoregulatory sweat test were reviewed. Pattern and lesion site (preganglionic, postganglionic, or mixed) were determined based on thermoregulatory sweat test and postganglionic sudomotor testing...
November 10, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27858718/finger-to-nose-test-findings-in-alzheimer-s-disease
#10
David Bergeron, Antoine Vermette, Justine De La Sablonnière, Anne-Marie Cayer, Robert Laforce, Rémi W Bouchard
The finger-to-nose test is routinely performed during the clinical assessment of patients with cognitive impairments. Although widely known to screen for cerebellar dysfunction by unmasking appendicular ataxia, we have found that this test could also be interpreted from a cognitive perspective. We describe two typical signs observed at the finger-to-nose test in Alzheimer's disease (AD) patients: the "second finger syndrome" and the "distal pressure sign". By retrospectively reviewing the medical records 461 patients followed at our academic memory clinic, we found that these signs are commonplace in AD, but not in vascular dementia or subjective cognitive impairment...
November 14, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27858369/cerebrotendinous-xanthomatosis-presenting-with-infantile-spasms-and-intellectual-disability
#11
Austin Larson, James D Weisfeld-Adams, Tim A Benke, Penelope E Bonnen
Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestations include tendon xanthomas, polyneuropathy, and abnormal neuroimaging. Pathogenic biallelic variants in CYP27A1 leading to compromised function of sterol 27-hydroxylase result in accumulation of detectable toxic intermediates of bile acid synthesis rendering both genetic and biochemical testing effective diagnostic tools...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27857688/modulation-plasticity-and-pathophysiology-of-the-parallel-fiber-purkinje-cell-synapse
#12
REVIEW
Eriola Hoxha, Filippo Tempia, Pellegrino Lippiello, Maria Concetta Miniaci
The parallel fiber-Purkinje cell (PF-PC) synapse represents the point of maximal signal divergence in the cerebellar cortex with an estimated number of about 60 billion synaptic contacts in the rat and 100,000 billions in humans. At the same time, the Purkinje cell dendritic tree is a site of remarkable convergence of more than 100,000 parallel fiber synapses. Parallel fiber activity generates fast postsynaptic currents via α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors, and slower signals, mediated by mGlu1 receptors, resulting in Purkinje cell depolarization accompanied by sharp calcium elevation within dendritic regions...
2016: Frontiers in Synaptic Neuroscience
https://www.readbyqxmd.com/read/27856333/novel-homozygous-missense-mutation-in-aldh7a1-causes-neonatal-pyridoxine-dependent-epilepsy
#13
Emanuele G Coci, Luca Codutti, Christian Fink, Sophie Bartsch, Gunnar Grüning, Thomas Lücke, Ingo Kurth, Joachim Riedel
Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step in the lysine metabolism of the brain. ALDH7A1 dysfunction causes an accumulation of α-AASA and δ(1)-piperideine-6-carboxylic acid (P6C), which are in equilibrium with each other. P6C binds and inactivates pyridoxal 5'-phosphate (PLP), the active form of pyridoxine...
November 14, 2016: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/27853964/brain-pathway-differences-between-parkinson-s-disease-patients-with-and-without-rem-sleep-behavior-disorder
#14
Mina Ansari, Farzaneh Rahmani, Mahsa Dolatshahi, Atefe Pooyan, Mohammad Hadi Aarabi
PURPOSE: REM (rapid eye movement) sleep behavior disorder (RBD) is characterized by increased muscle tone and violent limb movements and is a usual symptom of the early stages of Parkinson's disease (PD). PD patients with RBD represent faster motor and cognitive dysfunction progression. However, there are limited studies on possible structural brain changes underpinning this disorder. METHODS: Diffusion magnetic resonance imaging (DMRI) was used to assess whether microstructural abnormalities in the brain of 23 RBD positive PD are detectable compared to 31 RBD negative PD...
November 16, 2016: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/27853938/differential-pattern-of-cerebellar-atrophy-in-tremor-predominant-and-akinetic-rigidity-predominant-parkinson-s-disease
#15
Camila Callegari Piccinin, Lidiane Soares Campos, Rachel Paes Guimarães, Luiza Gonzaga Piovesana, Maria Cristina Arci Dos Santos, Paula Christina Azevedo, Brunno Machado Campos, Thiago Junqueira Ribeiro de Rezende, Augusto Amato-Filho, Fernando Cendes, Anelyssa D'Abreu
Parkinson's disease (PD) is an akinetic-rigid disorder characterized by basal ganglia dysfunction and a possible cerebello-thalamo-cortical circuit involvement. This study aims to investigate the pattern of cerebellar involvement in PD and to assess whether it correlates with clinical parameters. MRI scans were acquired from 50 healthy controls (HC) and 63 patients; 44 were classified as tremor-predominant-PD (PDT) and 19 as akinetic/rigidity-predominant-PD (PDAR). We designed an analysis of covariance including the three groups and contrasted as follows: (1) all 63 PD vs HC, (2) PDT vs HC, (3) PDAR vs HC, and (4) PDT vs PDAR...
November 16, 2016: Cerebellum
https://www.readbyqxmd.com/read/27853371/the-ncan-gene-schizophrenia-susceptibility-and-cognitive-dysfunction
#16
Peirong Wang, Jun Cai, Jianliang Ni, Jiangtao Zhang, Wei Tang, Chen Zhang
BACKGROUND: Cognitive dysfunction has been recognized as a cardinal feature of schizophrenia. Elucidating the neurobiological substrates of cognitive dysfunction in schizophrenia would help identify the underlying mechanism of this disorder. The rs1064395 single nucleotide polymorphism, within the gene encoding neurocan (NCAN), is reported to be associated with schizophrenia in European populations and may influence brain structure in patients with schizophrenia. METHODS: In this study, we aimed to explore whether NCAN rs1064395 confers some risk for schizophrenia and cognitive dysfunction in Han Chinese...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/27852787/roles-of-cbln1-in-non-motor-functions-of-mice
#17
Shintaro Otsuka, Kohtarou Konno, Manabu Abe, Junko Motohashi, Kazuhisa Kohda, Kenji Sakimura, Masahiko Watanabe, Michisuke Yuzaki
: The cerebellum is thought to be involved in cognitive functions in addition to its well established role in motor coordination and motor learning in humans. Cerebellin 1 (Cbln1) is predominantly expressed in cerebellar granule cells and plays a crucial role in the formation and function of parallel fiber-Purkinje cell synapses. Although genes encoding Cbln1 and its postsynaptic receptor, the delta2 glutamate receptor (GluD2), are suggested to be associated with autistic-like traits and many psychiatric disorders, whether such cognitive impairments are caused by cerebellar dysfunction remains unclear...
November 16, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27842522/what-is-the-impact-of-child-abuse-on-gray-matter-abnormalities-in-individuals-with-major-depressive-disorder-a-case-control-study
#18
Sung Jun Ahn, Sunghyon Kyeong, Sang Hyun Suh, Jae-Jin Kim, Tae-Sub Chung, Jeong-Ho Seok
BACKGROUND: Patients with major depressive disorder (MDD) present heterogeneous clinical symptoms, and childhood abuse is associated with deepening of psychopathology. The aim of this study was to identify structural brain abnormalities in MDD and to assess further differences in gray matter density (GMD) associated with childhood abuse in MDD. METHODS: Differences in regional GMD between 34 MDD patients and 26 healthy controls were assessed using magnetic resonance imaging and optimized voxel-based morphometry...
November 14, 2016: BMC Psychiatry
https://www.readbyqxmd.com/read/27825784/does-comt-val158met-polymorphism-influence-p50-sensory-gating-eye-tracking-or-saccadic-inhibition-dysfunctions-in-schizophrenia
#19
Caroline Demily, Sandrine Louchart-de-la-Chapelle, Irène Nkam, Nicolas Ramoz, Pierre Denise, Alain Nicolas, Caroline Savalle, Florence Thibaut
Three electrophysiological endophenotypes are routinely studied in schizophrenia (SCZ): smooth pursuit eye movement (SPEM) dysfunction, deficits in P50 auditory-evoked potential inhibition, and saccadic inhibition deficits. The current study aimed to investigate the relationship between the COMT val158met polymorphism and these three endophenotypes. One hundred four SCZ patients (DSM-IV-R criteria) and 89 healthy controls were included in this study. P50 auditory-evoked potential inhibition, antisaccade paradigm and SPEM were analyzed...
October 27, 2016: Psychiatry Research
https://www.readbyqxmd.com/read/27824897/functional-plasticity-after-unilateral-vestibular-midbrain-infarction-in-human-positron-emission-tomography
#20
Sandra Becker-Bense, Hans-Georg Buchholz, Bernhard Baier, Mathias Schreckenberger, Peter Bartenstein, Andreas Zwergal, Thomas Brandt, Marianne Dieterich
The aim of the study was to uncover mechanisms of central compensation of vestibular function at brainstem, cerebellar, and cortical levels in patients with acute unilateral midbrain infarctions presenting with an acute vestibular tone imbalance. Eight out of 17 patients with unilateral midbrain infarctions were selected on the basis of signs of a vestibular tone imbalance, e.g., graviceptive (tilts of perceived verticality) and oculomotor dysfunction (skew deviation, ocular torsion) in F18-fluordeoxyglucose (FDG)-PET at two time points: A) in the acute stage, and B) after recovery 6 months later...
2016: PloS One
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