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Cerebellar dysfunction

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https://www.readbyqxmd.com/read/28723727/longitudinal-analysis-of-motor-symptoms-and-histopathology-in-woozy-mice-a-model-of-cerebellar-ataxia
#1
Takemitsu Hayashi, Tomoya Onozato, Isao Wanajo, Morimichi Hayashi, Hiroo Takeda, Yoshikazu Fujimori
Woozy (wz) mice develop ataxia and carry a mutation in the Sil1 gene. Homozygous wz mice have been characterized histopathologically, but no details of their motor function have been reported. In the present study, to comprehensively understand the relationship between symptomatic progression and pathological feature, we evaluated motor function and neurodegeneration with age from presymptomatic to terminal stages. We evaluated the motor function of homozygous and heterozygous wz mice aged from 5 to 71 weeks...
July 18, 2017: Neuroreport
https://www.readbyqxmd.com/read/28701995/cerebellar-dysfunction-in-multiple-sclerosis
#2
REVIEW
Alastair Wilkins
Multiple sclerosis (MS) commonly affects the cerebellum causing acute and chronic symptoms. Cerebellar signs contribute significantly to clinical disability, and symptoms such as tremor, ataxia, and dysarthria are particularly difficult to treat. Increasing knowledge concerning the pathophysiology of cerebellar disease in MS from human postmortem studies, experimental models, and clinical trials has raised the hope that cerebellar symptoms will be better treated in the future.
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28698611/flavonoid-enhances-the-glyoxalase-pathway-in-cerebellar-neurons-to-retain-cellular-functions
#3
Joel Frandsen, Prabagaran Narayanasamy
Oxidative stress is damaging to cells and contributes to aging and neurodegenerative disease. This state is mediated by production of imbalanced molecules, and reactive dicarbonyl compounds - mainly methylglyoxal. The glyoxalase pathway is an antioxidant defense system utilized to detoxify methylglyoxal and neutralize free radicals. Pathway dysfunction leads to overproduction and accumulation of toxic, prooxidant compounds. We hypothesize flavonoid treatment as a means to enhance the glyoxalase pathway's ability to detoxify in neurons...
July 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28690584/decompression-in-chiari-malformation-clinical-ocular-motor-cerebellar-and-vestibular-outcome
#4
Nicolina Goldschagg, Katharina Feil, Franziska Ihl, Siegbert Krafczyk, Mathias Kunz, Jörg Christian Tonn, Michael Strupp, Aurelia Peraud
BACKGROUND: Treatment of Chiari malformation can include suboccipital decompression with resection of one cerebellar tonsil. Its effects on ocular motor and cerebellar function have not yet been systematically examined. OBJECTIVE: To investigate whether decompression, including resection of one cerebellar tonsil, leads to ocular motor, vestibular, or cerebellar deficits. PATIENTS AND METHODS: Ten patients with Chiari malformation type 1 were systematically examined before and after (1 week and 3 months) suboccipital decompression with unilateral tonsillectomy...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28689294/cerebellar-disease-associated-with-anti-glutamic-acid-decarboxylase-antibodies-review
#5
REVIEW
José Fidel Baizabal-Carvallo, Marlene Alonso-Juarez
Several neurological syndromes have been recognized associated to GAD antibodies. Among those disorders, cerebellar ataxia (CA) is one of the most common, along with stiff-person syndrome. Patients with GAD associated CA present with a progressive pancerebellar syndrome, with a subacute or chronic evolution, along with other neurological manifestations such as stiffness, oculomotor dysfunction, epilepsy, and cognitive dysfunction. These symptoms may be preceded by the so-called "brainstem attacks", where manifestations consistent with transient dysfunction of the brainstem may be observed...
July 8, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28689261/investigation-of-cognitive-circuits-using-steady-state-cerebral-blood-volume-and-diffusion-tensor-imaging-in-patients-with-mild-cognitive-impairment-following-electrical-injury
#6
Chang-Hyun Park, Cheong Hoon Seo, Myung Hun Jung, So Young Joo, Soyeon Jang, Ho Young Lee, Suk Hoon Ohn
PURPOSE: We utilized cerebral blood volume (CBV) magnetic resonance imaging and diffusion tensor imaging (DTI) to investigate changes in cognitive networks in patients experiencing cognitive dysfunction following electrical injury. METHODS: Cognitive function was assessed across various domains, including attention, verbal memory, executive function, and language. Depressive symptoms were also evaluated. CBV maps and DTI measures were obtained from 24 patients (age, 41...
July 8, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28688851/characterization-of-the-dominant-inheritance-mechanism-of-episodic-ataxia-type-2
#7
Kevin Dorgans, Julie Salvi, Federica Bertaso, Ludivine Bernard, Philippe Lory, Frederic Doussau, Alexandre Mezghrani
Episodic Ataxia type 2 (EA2) is an autosomal dominant neuronal disorder linked to mutations in the Cav2.1 subunit of P/Q-type calcium channels. In vitro studies have established that EA2 mutations induce loss of channel activity and that EA2 mutants can exert a dominant negative effect, suppressing normal Cav2.1 activity through protein misfolding and trafficking defects. To date, the role of this mechanism in the disease pathogenesis is unknown because no animal model exists. To address this issue, we have generated a mouse bearing the R1497X nonsense mutation in Cav2...
July 5, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28688606/a-clinical-and-neurophysiological-motor-signature-of-unverricht-lundborg-disease
#8
E Hainque, A Blancher, V Mesnage, S Rivaud-Pechoux, A Bertrand, S Dupont, V Navarro, E Roze, I Gourfinkel-An, E Apartis
OBJECTIVES: Unverricht-Lundborg disease (ULD) is the most common form of progressive myoclonus epilepsy. Cerebellar dysfunction may appear over time, contributing along with myoclonus to motor disability. The purpose of the present work was to clarify the motor and neurophysiological characteristics of ULD patients. METHODS: Nine patients with genetically proven ULD were evaluated clinically (medical history collected from patient charts, the Scale for the Assessment and Rating of Ataxia and Unified Myoclonus Rating Scale)...
July 5, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28687733/catechol-o-methyltransferase-polymorphism-is-associated-with-the-cortico-cerebellar-functional-connectivity-of-executive-function-in-children-with-attention-deficit-hyperactivity-disorder
#9
Yoshifumi Mizuno, Minyoung Jung, Takashi X Fujisawa, Shinichiro Takiguchi, Koji Shimada, Daisuke N Saito, Hirotaka Kosaka, Akemi Tomoda
The cerebellum, although traditionally considered a motor structure, has been increasingly recognized to play a role in regulating executive function, the dysfunction of which is a factor in attention-deficit/hyperactivity disorder (ADHD). Additionally, catechol-O-methyltransferase (COMT) polymorphism has been reported to be associated with executive function. We examined whether the cortico-cerebellar executive function network is altered in children with ADHD and whether COMT polymorphism is associated with the altered network...
July 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28687512/recessive-mutation-in-exosc3-associates-with-mitochondrial-dysfunction-and-pontocerebellar-hypoplasia
#10
Gudrun Schottmann, Sylvie Picker-Minh, Jana Marie Schwarz, Esther Gill, Richard J T Rodenburg, Werner Stenzel, Angela M Kaindl, Markus Schuelke
Recessive mutations in EXOSC3, encoding a subunit of the human RNA exosome complex, cause pontocerebellar hypoplasia type 1b (PCH1B). We report a boy with severe muscular hypotonia, psychomotor retardation, progressive microcephaly, and cerebellar atrophy. Biochemical abnormalities comprised mitochondrial complex I and pyruvate dehydrogenase complex (PDHc) deficiency. Whole exome sequencing uncovered a known EXOSC3 mutation p.(D132A) as the underlying cause. In patient fibroblasts, a large portion of the EXOSC3 protein was trapped in the cytosol...
July 4, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28680733/unilateral-isolated-hypoglossal-nerve-palsy-due-to-pathologically-adherent-pica-fusiform-aneurysm-a-case-report
#11
Mike E Ekuma, Tetsuya Goto, Yoshiki Hanaoka, Kohei Kanaya, Tetsuyoshi Horiuchi, Kazuhiro Hongo, Samuel C Ohaegbulam
BACKGROUND: Isolated hypoglossal nerve palsy due to mechanical compression by a vascular lesion is rare. CASE DESCRIPTION: We report the case of a 72-year-old man who presented with a 4-year history of swallowing disturbance and subsequently progressively worsening left-sided tongue atrophy. He was referred to our department by a neurologist due a magnetic resonance imaging detected left vertebral artery compression of the medulla. Neurological examination was unremarkable except for left hypoglossal nerve dysfunction, which presented as left-sided atrophy and impaired movement of the tongue...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28674367/neuromyelitis-optica-spectrum-disorder-with-recurrent-intracranial-hemorrhage
#12
Hiroaki Yaguchi, Yasunori Mito, Ikkei Ohashi, Taichi Nomura, Ichiro Yabe, Yasutaka Tajima
The patient was a woman without hypertension who had previously experienced intracranial hemorrhage twice at 48 and 56 years of age. At 59 years of age, she was diagnosed with neuromyelitis optica spectrum disorder (NMOSD) based on the presence of a brain stem lesion and the detection of anti-aquaporin 4 (AQP4) antibodies. After 5 months of continuous treatment with prednisolone (15 mg/day), she presented with optic neuritis and intracranial bleeding. A recurrent attack of NMOSD and intracranial hemorrhage were concurrently diagnosed...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28673740/forebrain-knock-out-of-torsina-reduces-striatal-free-water-and-impairs-whole-brain-functional-connectivity-in-a-symptomatic-mouse-model-of-dyt1-dystonia
#13
Jesse C DeSimone, Samuel S Pappas, Marcelo Febo, Roxana G Burciu, Priyank Shukla, Luis M Colon-Perez, William T Dauer, David E Vaillancourt
Multiple lines of evidence implicate striatal dysfunction in the pathogenesis of dystonia, including in DYT1, a common inherited form of the disease. The impact of striatal dysfunction on connected motor circuits and their interaction with other brain regions is poorly understood. Conditional knock-out (cKO) of the DYT1 protein torsinA from forebrain cholinergic and GABAergic neurons creates a symptomatic model that recapitulates many characteristics of DYT1 dystonia, including the developmental onset of overt twisting movements that are responsive to antimuscarinic drugs...
July 1, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28673510/eye-movements-in-essential-tremor-patients-with-parkinsonian-and-cerebellar-signs
#14
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/28669908/modulation-of-cognitive-cerebello-cerebral-functional-connectivity-by-lateral-cerebellar-continuous-theta-burst-stimulation
#15
Anuj Rastogi, Robin Cash, Katharine Dunlop, Michael Vesia, Aaron Kucyi, Ayda Ghahremani, Jonathan Downar, Joyce Chen, Robert Chen
Network connectivity measured with resting state functional magnetic resonance imaging (rsfMRI) has revealed the contribution of distinct cerebellar lobules to an array of brain wide networks sub-serving motor and cognitive processes. As distinct cerebellar lobules form relatively accessible nodes of different brain networks, this raises the possibility for site-specific modulation of network connectivity using non-invasive brain stimulation techniques such as transcranial magnetic stimulation (TMS). Continuous theta burst transcranial magnetic stimulation (cTBS) induces long-lasting inhibition of cortical areas...
June 29, 2017: NeuroImage
https://www.readbyqxmd.com/read/28669454/neurophysiological-studies-on-atypical-parkinsonian-syndromes
#16
REVIEW
Matteo Bologna, Antonio Suppa, Flavio Di Stasio, Antonella Conte, Giovanni Fabbrini, Alfredo Berardelli
There have been a relatively large number of experimental investigations using neurophysiological techniques in patients with atypical parkinsonian syndromes (APs), including progressive supranuclear palsy, cortico-basal syndrome and multiple system atrophy. Earlier studies focused on the startle, blink and trigemino-cervical reflexes and showed several brainstem abnormalities. Studies using transcranial magnetic stimulation have revealed a number of abnormalities in primary motor cortex and inter-hemispheric connectivity...
June 27, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28659154/spinocerebellar-ataxia-type-29-due-to-mutations-in-itpr1-a-case-series-and-review-of-this-emerging-congenital-ataxia
#17
Jessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B Everman, Lee M Frazer, Michael T Geraghty, Amy D Harper, Julie R Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R Vanstone, Melissa Gibbons, Abigail Collins, Brent L Fogel, Tracy Dudding-Byth, Kym M Boycott
BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging. Recently, missense mutations in ITPR1 were determined to be responsible. RESULTS: Clinical information on 21 individuals from 15 unrelated families with ITPR1 mutations was retrospectively collected using standardized questionnaires, including 11 previously unreported singletons and 2 new patients from a previously reported family...
June 28, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28656117/obsessive-compulsive-disorder-associated-with-posterior-cranial-fossa-meningioma
#18
Nobuyuki Takeuchi, Etushi Kato, Kousuke Kanemoto
We report here a patient in whom the effects of a cerebellum mass may have led to development of obsessive-compulsive disorder (OCD). A 33-year-old woman showed symptoms of OCD, including obsessive worry about infection from tainted blood and repetitive confirmation, which worsened during pregnancy. She had comprehension in regard to her illness and no evidence of cognitive dysfunction and did not meet other DSM-5 criteria such as depression. One month after giving childbirth, the symptoms worsened, while headache and dizziness also developed...
2017: Case Reports in Psychiatry
https://www.readbyqxmd.com/read/28637818/the-cerebellum-does-more-than-sensory-prediction-error-based-learning-in-sensorimotor-adaptation-tasks
#19
Peter A Butcher, Richard B Ivry, Sheng-Han Kuo, David Rydz, John W Krakauer, Jordan A Taylor
Individuals with damage to the cerebellum perform poorly in sensorimotor adaptation paradigms. This deficit has been attributed to impairment in sensory-prediction-error-based updating of an internal forward model, a form of implicit learning. These individuals can, however, successfully counter a perturbation when instructed with an explicit aiming strategy. This successful use of an instructed aiming strategy presents a paradox: In adaptation tasks, why don't individuals with cerebellar damage come up with an aiming solution on their own to compensate for their implicit learning deficit? To explore this question, we employed a variant of a visuomotor rotation task in which, prior to executing a movement on each trial, the participants verbally reported their intended aiming location...
June 21, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#20
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
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