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Cerebellar dysfunction

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https://www.readbyqxmd.com/read/29785582/altered-cerebro-cerebellum-resting-state-functional-connectivity-in-hiv-infected-male-patients
#1
Huijuan Wang, Ruili Li, Yawen Zhou, Yanming Wang, Jin Cui, Benedictor Alexander Nguchu, Bensheng Qiu, Xiaoxiao Wang, Hongjun Li
In addition to the role of planning and executing movement, the cerebellum greatly contributes to cognitive process. Numerous studies have reported structural and functional abnormalities in the cerebellum for HIV-infected patients, but little is known about the altered functional connectivity of particular cerebellar subregions and the cerebrum. Therefore, this study aimed to explore the resting-state functional connectivity (rsFC) changes of the cerebellum and further analyze the relationship between the rsFC changes and the neuropsychological evaluation...
May 21, 2018: Journal of Neurovirology
https://www.readbyqxmd.com/read/29783976/possible-multiple-system-atrophy-with-predominant-parkinsonism-in-a-patient-with-chronic-schizophrenia-a-case-report
#2
Hiroshi Komatsu, Masaaki Kato, Teiko Kinpara, Takashi Ono, Yoshihisa Kakuto
BACKGROUND: Multiple system atrophy (MSA) is an adult-onset, rare, and progressive neurodegenerative disorder characterized by a varying combination of autonomic failure, cerebellar ataxia, and parkinsonism. MSA is categorized as MSA-P with predominant parkinsonism, and as MSA-C with predominant cerebellar features. The prevalence of MSA has been reported to be between 1.86 and 4.9 cases per 100,000 individuals. In contrast, approximately 1% of the population is affected by schizophrenia during their lifetime; therefore, MSA-P comorbidity is very rare in schizophrenic patients...
May 21, 2018: BMC Psychiatry
https://www.readbyqxmd.com/read/29780879/altered-cerebellar-short-term-plasticity-but-no-change-in-postsynaptic-ampa-type-glutamate-receptors-in-a-mouse-model-of-juvenile-batten-disease
#3
Dorota Studniarczyk, Elizabeth L Needham, Hannah M Mitchison, Mark Farrant, Stuart G Cull-Candy
Juvenile Batten disease is the most common progressive neurodegenerative disorder of childhood. It is associated with mutations in the CLN3 gene, causing loss of function of CLN3 protein and degeneration of cerebellar and retinal neurons. It has been proposed that changes in granule cell AMPA-type glutamate receptors (AMPARs) contribute to the cerebellar dysfunction. In this study, we compared AMPAR properties and synaptic transmission in cerebellar granule cells from wild-type and Cln3 knock-out mice. In Cln3 Δ ex1-6 cells, the amplitude of AMPA-evoked whole-cell currents was unchanged...
March 2018: ENeuro
https://www.readbyqxmd.com/read/29772390/pathobiology-of-christianson-syndrome-linking-disrupted-endosomal-lysosomal-function-with-intellectual-disability-and-sensory-impairments
#4
Mallory Kerner-Rossi, Maria Gulinello, Steven Walkley, Kostantin Dobrenis
Christianson syndrome (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe intellectual disability with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy. CS is due to loss-of-function mutations in SLC9A6, encoding NHE6, a sodium-hydrogen exchanger involved in the regulation of early endosomal pH. Here we review what is currently known about the neuropathogenesis of CS, based on insights from experimental models, which to date have focused on mechanisms that affect the CNS, specifically the brain...
May 14, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29762671/motor-impairments-correlate-with-social-deficits-and-restricted-neuronal-loss-in-an-environmental-model-of-autism
#5
Tareq Al Sagheer, Obelia Haida, Anais Balbous, Maureen Francheteau, Emmanuel Matas, Pierre-Olivier Fernagut, Mohamed Jaber
Background: Motor impairments are amongst the earliest and most consistent signs of autism spectrum disorders (ASD) but are not used as diagnostic criteria. In addition, the relationship between motor and cognitive impairments and their respective neural substrates remain unknown. Methods: Here, we aimed at determining whether a well-acknowledged animal model of ASD, the valproic acid (VPA) model, displays motor impairments and whether they may correlate with social deficits and neuronal loss within motor brain areas...
May 12, 2018: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29760657/purkinje-cell-signaling-deficits-in-animal-models-of-ataxia
#6
REVIEW
Eriola Hoxha, Ilaria Balbo, Maria Concetta Miniaci, Filippo Tempia
Purkinje cell (PC) dysfunction or degeneration is the most frequent finding in animal models with ataxic symptoms. Mutations affecting intrinsic membrane properties can lead to ataxia by altering the firing rate of PCs or their firing pattern. However, the relationship between specific firing alterations and motor symptoms is not yet clear, and in some cases PC dysfunction precedes the onset of ataxic signs. Moreover, a great variety of ionic and synaptic mechanisms can affect PC signaling, resulting in different features of motor dysfunction...
2018: Frontiers in Synaptic Neuroscience
https://www.readbyqxmd.com/read/29750732/the-patchy-tremor-landscape-recent-advances-in-pathophysiology
#7
Freek Nieuwhof, Pattamon Panyakaew, Bart P van de Warrenburg, Cecile Gallea, Rick C Helmich
PURPOSE OF REVIEW: We focus on new insights in the pathophysiology of Parkinson's disease tremor, essential tremor, tremor in dystonia, and orthostatic tremor. RECENT FINDINGS: Neuroimaging findings suggest that Parkinson's disease resting tremor is associated with dopaminergic dysfunction, serotonergic dysfunction, or both. Not all tremors in Parkinson's disease have the same pathophysiology: postural tremor in Parkinson's disease can be subdivided into pure postural tremor, which involves nondopaminergic mechanisms, and re-emergent tremor, which has a dopaminergic basis...
May 9, 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29746398/dystonia-as-a-network-disorder-a-concept-in-evolution
#8
Tommaso Schirinzi, Giuseppe Sciamanna, Nicola B Mercuri, Antonio Pisani
PURPOSE OF REVIEW: This survey takes into consideration the most recent advances in both human degenerative ataxias, disorders with a well established cerebellar origin, and discoveries from dystonia rodent models aimed at discussing the pathogenesis of dystonia. RECENT FINDINGS: One common recurrent term that emerges when describing dystonia is heterogeneity. Indeed, dystonia encompasses a wide group of 'hyperkinetic' movement disorders, with heterogeneous causes, classification, anatomical and physiological substrates...
May 8, 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29741614/loss-of-cerebellar-glutamate-transporters-eaat4-and-glast-differentially-affects-the-spontaneous-firing-pattern-and-survival-of-purkinje-cells
#9
Emma M Perkins, Yvonne L Clarkson, Daumante Suminaite, Alastair R Lyndon, Kohichi Tanaka, Jeffrey D Rothstein, Paul Skehel, David J A Wyllie, Mandy Jackson
Loss of excitatory amino acid transporters (EAATs) has been implicated in a number of human diseases including spinocerebellar ataxias, Alzhiemer's disease and motor neuron disease. EAAT4 and GLAST/EAAT1 are the two predominant EAATs responsible for maintaining low extracellular glutamate levels and preventing neurotoxicity in the cerebellum, the brain region essential for motor control. Here using genetically modified mice we identify new critical roles for EAAT4 and GLAST/EAAT1 as modulators of Purkinje cell (PC) spontaneous firing patterns...
May 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29740943/vanishing-white-matter-a-leukodystrophy-due-to-astrocytic-dysfunction
#10
Marianna Bugiani, Caroline Vuong, Marjolein Breur, Marjo S van der Knaap
VWM is one of the most prevalent leukodystrophies with unique clinical, pathological and molecular features. It mostly affects children, but may develop at all ages, from birth to senescence. It is dominated by cerebellar ataxia and susceptible to stresses that act as factors provoking disease onset or episodes of rapid neurological deterioration possibly leading to death. VWM is caused by mutations in any of the genes encoding the five subunits of the eukaryotic translation initiation factor 2B (eIF2B). Although eIF2B is ubiquitously expressed, VWM primarily manifests as a leukodystrophy with increasing white matter rarefaction and cystic degeneration, meager astrogliosis with no glial scarring and dysmorphic immature astrocytes and increased numbers of oligodendrocyte progenitor cells that are restrained from maturing into myelin-forming cells...
May 2018: Brain Pathology
https://www.readbyqxmd.com/read/29736264/clinical-management-of-friedreich-s-ataxia-a-report-of-two-cases
#11
Yannis Dionyssiotis, Athina Kapsokoulou, Anna Danopoulou, Maria Kokolaki, Athina Vadalouka
Introduction: Friedreich's ataxia (FDRA) is the most common autosomal recessive, early-onset ataxia. FDRA is a progressive neurodegenerative disease that mainly affects the posterior (dorsal) columns of the spinal cord resulting in sensory ataxia. It manifests in initial symptoms of poor coordination and gait disturbance. Case presentation: We present two cases, a brother (54 years old) and sister (56 years old), with FDRA that are chronically institutionalized for incomplete quadriplegia without spasticity...
2018: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/29725949/far-infrared-radiation-improves-motor-dysfunction-and-neuropathology-in-spinocerebellar-ataxia-type-3-mice
#12
Shin-Wu Liu, Jui-Chih Chang, Sheng-Fei Chuang, Ko-Hung Liu, Wen-Ling Cheng, Hui-Ju Chang, Huei-Shin Chang, Ta-Tsung Lin, Ching-Liang Hsieh, Wei-Yong Lin, Mingli Hsieh, Shou-Jen Kuo, Chin-San Liu
Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine neurodegenerative disease resulting from the misfolding and accumulation of a pathogenic protein, causing cerebellar dysfunction, and this disease currently has no effective treatments. Far-infrared radiation (FIR) has been found to protect the viability of SCA3 cells by preventing mutant ataxin-3 protein aggregation and promoting autophagy. However, this possible treatment still lacks in vivo evidence. This study assessed the effect of FIR therapy on SCA3 in vivo by using a mouse model over 28 weeks...
May 3, 2018: Cerebellum
https://www.readbyqxmd.com/read/29725839/executive-dysfunction-in-patients-with-spinocerebellar-ataxia-type-3
#13
Itaru Tamura, Asako Takei, Shinsuke Hamada, Hiroyuki Soma, Michio Nonaka, Sanae Homma, Fumio Moriwaka
The aim of this study was to assess the cognitive functions of patients with spinocerebellar ataxia type 3(SCA3). We examined 15 patients with genetically confirmed SCA3 and 15 healthy control subjects matched for age, years of education, and intellectual ability. We administered verbal memory (word recall and word recognition) and executive function tasks (word fluency test, forward and backward digit and visual span tests, Kana Pick-out Test, Trail Making Test, and conflicting instructions and a Go/NoGo task from the Frontal Assessment Battery)...
May 3, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29724603/high-prevalence-of-olfactory-dysfunction-in-cervical-dystonia
#14
Milena Marek, Susanne Linnepe, Christine Klein, Thomas Hummel, Sebastian Paus
INTRODUCTION: Olfactory dysfunction has been established as a frequent non-motor symptom in neurodegenerative and movement disorders such as Parkinson's disease, Alzheimer's disease, and hereditary ataxias. To expand knowledge of non-motor symptoms in dystonia, and to test for a potential endophenotype, we examined olfactory function in cervical dystonia (CD). METHODS: In patients with CD, and neurologically healthy controls, olfactory function was examined by "Sniffin' Sticks", a test of nasal chemosensory function based on pen-like odor dispensing devices...
April 25, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29720346/tako-tsubo-cardiomyopathy-with-transient-global-amnesia-and-cerebellar-embolic-stroke-triggered-by-existential-fear
#15
Claudia Stöllberger, Nicolas DeCillia, Josef Finsterer
BACKGROUND: Embolic stroke is a complication of Tako-Tsubo-cardiomyopathy (TTC), transient left ventricular dysfunction mimicking myocardial infarction without coronary culprit lesion explaining the whole left ventricular dysfunction. Transient global amnesia (TGA) is characterized by sudden onset of anterograde amnesia without compromise of other neurologic functions. CASE REPORT: A 57 years old female was admitted because of sudden confusion and loss of her memory after emotional stress...
January 6, 2018: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29715545/multiple-system-atrophy-and-cag-repeat-length-a-genetic-screening-of-polyglutamine-disease-genes-in-italian-patients
#16
Alessia Mongelli, Lidia Sarro, Elena Rizzo, Lorenzo Nanetti, Nicoletta Meucci, Gianni Pezzoli, Stefano Goldwurm, Franco Taroni, Caterina Mariotti, Cinzia Gellera
Multiple system atrophy (MSA) is an adult onset, progressive, neurodegenerative disorder of unknown etiology characterized by autonomic dysfunction, parkinsonism (MSA-P) and cerebellar ataxia (MSA-C). The phenotypic spectrum may present overlapping features with other neurodegenerative diseases, particularly the autosomal dominant inherited polyglutamine disorders. To investigate the possible contribution of CAG expansions in the MSA phenotype, we analyzed the triplet repeat length in the autosomal dominant causative genes for spinocerebellar ataxia (SCA) type 1, 2, 3, 6, 7, 17, dentatorubral-pallidoluysian atrophy (DRPLA) and Huntington disease (HD) in a cohort of 246 Italian MSA patients...
April 28, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29713360/intestinal-duplication-revealed-by-posterior-reversible-encephalopathy-syndrome
#17
Yosra Kerkeni, Hela Louati, Mourad Hamzaoui
We report a unique case of intestinal duplication detected on posterior reversible encephalopathy syndrome (PRES) in a 13-year-old girl. She was admitted to the pediatric Emergency Department because of generalized seizures. Radiological assessment revealed a large, well-defined, thick-walled cystic lesion in the mid abdomen, suggestive of duplication cyst associated to a PRES. Exploration confirmed the diagnosis of ileal duplication cyst, and the mass was resected. The postoperative course was uneventful. Both hypertension and neurological dysfunction resolved after the mass resection...
April 2018: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29713221/altered-white-matter-integrity-in-human-immunodeficiency-virus-associated-neurocognitive-disorder-a-tract-based-spatial-statistics-study
#18
Se Won Oh, Na-Young Shin, Jun Yong Choi, Seung-Koo Lee, Mi Rim Bang
Objective: Human immunodeficiency virus (HIV) infection has been known to damage the microstructural integrity of white matter (WM). However, only a few studies have assessed the brain regions in HIV-associated neurocognitive disorders (HAND) with diffusion tensor imaging (DTI). Therefore, we sought to compare the DTI data between HIV patients with and without HAND using tract-based spatial statistics (TBSS). Materials and Methods: Twenty-two HIV-infected patients (10 with HAND and 12 without HAND) and 11 healthy controls (HC) were enrolled in this study...
May 2018: Korean Journal of Radiology: Official Journal of the Korean Radiological Society
https://www.readbyqxmd.com/read/29713105/progressive-non-familial-adult-onset-cerebellar-degeneration-an-unusual-occurrence-with-hashimoto-s-thyroiditis
#19
Raghavendra S Rao, Shubha Sheshadri, Dipanjan Bhattacharjee, Navin Patil, Karthik Rao
Progressive non-familial adult onset cerebellar degeneration has been rarely associated with hypothyroidism and is known to be reversible after therapy. We report a case of cerebellar atrophy in a 31 year old female whose detailed evaluation had revealed sub-clinical hypothyroidism secondary to autoimmune thyroiditis with a very high anti-TPO (anti-thyroid peroxidase) antibody levels. MRI (Magnetic Resonanace Imaging) of brain showed diffuse bilateral cerebellar atrophy. She was treated with thyroid hormone supplementation and after one year of follow up, cerebellar signs had disappeared completely with significant reduction in anti-TPO antibody levels...
March 13, 2018: Psychopharmacology Bulletin
https://www.readbyqxmd.com/read/29710734/evidence-of-neurobiological-changes-in-the-presymptomatic-pink1-knockout-rat
#20
Craig F Ferris, Thomas R Morrison, Sade Iriah, Samantha Malmberg, Praveen Kulkarni, Jochen C Hartner, Malav Trivedi
BACKGROUND: Genetic models of Parkinson's disease (PD) coupled with advanced imaging techniques can elucidate neurobiological disease progression, and can help identify early biomarkers before clinical signs emerge. PTEN-induced putative kinase 1 (PINK1) helps protect neurons from mitochondrial dysfunction, and a mutation in the associated gene is a risk factor for recessive familial PD. The PINK1 knockout (KO) rat is a novel model for familial PD that has not been neuroradiologically characterized for alterations in brain structure/function, alongside behavior, prior to 4 months of age...
April 25, 2018: Journal of Parkinson's Disease
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