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https://www.readbyqxmd.com/read/28445525/correction-lower-levels-of-uric-acid-and-striatal-dopamine-in-non-tremor-dominant-parkinson-s-disease-subtype
#1
(no author information available yet)
[This corrects the article DOI: 10.1371/journal.pone.0174644.].
2017: PloS One
https://www.readbyqxmd.com/read/28444183/calcium-dysregulation-and-cdk5-atm-pathway-involved-in-a-mouse-model-of-fragile-x-associated-tremor-ataxia-syndrome
#2
Gaëlle Robin, José R López, Glenda M Espinal, Susan Hulsizer, Paul J Hagerman, Isaac N Pessah
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological disorder that affects premutation carriers with 55-200 CGG-expansion repeats (preCGG) in FMR1, presenting with early alterations in neuronal network formation and function that precede neurodegeneration. Whether intranuclear inclusions containing DNA damage response (DDR) proteins, are causally linked to abnormal synaptic function, neuronal growth and survival are unknown. In a mouse that harbors a premutation CGG expansion (preCGG), cortical and hippocampal FMRP expression is moderately reduced from birth through adulthood, with greater FMRP reductions in the soma than in the neurite, despite several-fold elevation of Fmr1 mRNA levels...
April 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28443503/kratom-and-future-treatment-for-the-opiods-addiction-and-chroic-pain-periculo-beneficium
#3
Ismaliza Ismail, Suzaily Wahab, Hatta Sidi, Srijit Das, Loo Jiann Lin, Rosdinom Razali
Kratom (Mitragynaspeciosa), a natural existing plant found in South-East Asia, is tradi-tionally used as an herb to help to elevate a person's energy and also to treat numerous medical ailments. Other than the analgesic property, kratom has been used as an agent to overcome opioid withdrawal as it contains natural alkaloids, i.e. mitragynine, 7-hydroxymitragynine, and MGM-9, which has agonist affinity on the opioid receptors, including mu (μ) and kappa (κ). The role of neural reward pathway linked to μ-opioid receptors and both dopaminergic and GABA-ergic interneurons that express μ-opioid receptors were deliberated...
April 25, 2017: Current Drug Targets
https://www.readbyqxmd.com/read/28442996/structural-characteristics-of-simple-rna-repeats-associated-with-disease-and-their-deleterious-protein-interactions
#4
REVIEW
Adam Ciesiolka, Magdalena Jazurek, Karolina Drazkowska, Wlodzimierz J Krzyzosiak
Short Tandem Repeats (STRs) are frequent entities in many transcripts, however, in some cases, pathological events occur when a critical repeat length is reached. This phenomenon is observed in various neurological disorders, such as myotonic dystrophy type 1 (DM1), fragile X-associated tremor/ataxia syndrome, C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), and polyglutamine diseases, such as Huntington's disease (HD) and spinocerebellar ataxias (SCA). The pathological effects of these repeats are triggered by mutant RNA transcripts and/or encoded mutant proteins, which depend on the localization of the expanded repeats in non-coding or coding regions...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28442304/topography-of-essential-tremor
#5
Wei Chen, Franziska Hopfner, Silke Szymczak, Oliver Granert, Stefanie H Müller, Gregor Kuhlenbäumer, Günther Deuschl
INTRODUCTION: Topography of tremor manifestations is poorly investigated in essential tremor. The present study explores the prevalence and clinical correlates of head and/or voice tremor in essential tremor. METHODS: Out of a prospectively designed registry of 972 patients, 884 patients with definite and probable essential tremor had complete information on tremor localization. Demographic and clinical characteristics were compared among four subgroups: group A (without head or voice tremor, n = 619), B (with head but without voice tremor, n = 155), C (with voice but without head tremor, n = 47), and D (with both head and voice tremor, n = 63)...
April 20, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28439961/involvement-of-the-cerebellum-in-parkinson-s-disease-and-dementia-with-lewy-bodies
#6
K Seidel, M Bouzrou, N Heidemann, R Krüger, L Schöls, Wfa den Dunnen, H-W Korf, U Rüb
Patient brains with Parkinson's disease or Dementia with Lewy bodies show aggregation of alpha-synuclein in pre-cerebellar brainstem structures. Furthermore, patients exhibit resting tremor, unstable gait and impaired balance which may be associated with cerebellar dysfunction. Therefore, we screened the cerebella of 12 patients with alpha-synucleinopathies for neuropathological changes. Cerebellar nuclei and neighboring white matter displayed numerous aggregates, while lobules were mildly affected. Cerebellar aggregation pathology may suggest a prion-like spread originating from affected precerebellar structures and the high homogeneity between patients with Dementia with Lewy bodies and Parkinson's disease shows that both diseases likely belong to the same neuropathological spectrum...
April 25, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28438749/respiratory-difficulty-with-palatal-laryngeal-and-respiratory-muscle-tremor-in-adult-onset-alexander-s-disease
#7
John McAuley, Rowena Taylor, Anita Simonds, Sanjiv Chawda
Sleep apnoea and respiratory difficulties are reported in adult-onset Alexander's disease (AOAD), an autosomal-dominant leukodystrophy that presents mainly with progressive ataxia. We demonstrate for the first time that the respiratory symptoms can result from association of palatal tremor with a similar tremor of laryngeal and respiratory muscles that interrupts normal inspiration and expiration.A 60-year-old woman presented with progressive ataxia, palatal tremor and breathlessness. MRI revealed medullary atrophy, bilateral T2 hyperintensities in the dentate nuclei and hypertrophic olivary degeneration (HOD)...
April 23, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28438223/extrastriatal-changes-in-patients-with-late-onset-glutaric-aciduria-type-i-highlight-the-risk-of-long-term-neurotoxicity
#8
Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker, Inga Harting
BACKGROUND: Without neonatal initiation of treatment, 80-90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder. Onset of motor symptoms may be acute following encephalopathic crisis or insidious without apparent crisis. Additionally, so-called late-onset GA1 has been described in single patients diagnosed after the age of 6 years. With the aim of better characterizing and understanding late-onset GA1 we analyzed clinical findings, biochemical phenotype, and MRI changes of eight late-onset patients and compared these to eight control patients over the age of 6 years with early diagnosis and start of treatment...
April 24, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28436890/in-situ-force-augmentation-improves-surface-contact-and-force-control
#9
Randy Lee, Roberta Klatzky, George Stetten
Surgeons routinely perform surgery with noisy, sub-threshold, or obscured visual and haptic feedback, either due to the necessary surgical approach, or because the systems on which they are operating are exceedingly delicate. Technological solutions incorporating haptic feedback augmentation have been proposed to address these difficulties, but the consequences for motor control have not been directly investigated and quantified. In this paper, we present two isometric force generation tasks performed with a hand-held robotic tool that provides in-situ augmentation of force sensation...
April 24, 2017: IEEE Transactions on Haptics
https://www.readbyqxmd.com/read/28436534/a-novel-trpa1-variant-is-associated-with-carbamazepine-responsive-cramp-fasciculation-syndrome
#10
M J Nirenberg, R Chaouni, T M Biller, R M Gilbert, C Paisán-Ruiz
Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with CFS. Both subjects manifested other hypersensitivity-hyperexcitability symptoms, including asthma, gastroesophageal reflux, migraine, restless legs syndrome, tremor, cold hyperalgesia, and cardiac conduction defects...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28436001/gait-instability-in-valproate-treated-patients-call-to-measure-ammonia-levels
#11
S Kipervasser, C E Elger, A D Korczyn, R D Nass, C M Quesada, M Y Neufeld
OBJECTIVE: Hyperammonemia induced by valproate (VPA) treatment may lead to several neurological and systemic symptoms as well as to seizure exacerbation. Gait instability and recurrent falls are rarely mentioned as symptoms, especially not as predominant ones. METHODS: We report five adult patients with frontal lobe epilepsy (FLE) who were treated with VPA and in whom a primary adverse effect was unstable gait and falls. RESULTS: There were four males and one female patients with FLE, 25-42-year-old, three following epilepsy surgery...
April 23, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28434161/can-valproic-acid-regulate-neurogenesis-from-nestin-cells-in-the-adult-midbrain
#12
Parisa Farzanehfar, Malcolm K Horne, Tim D Aumann
Degeneration of dopamine (DA) neurons in the substantia nigra pars compacta (SNc) causes the motor symptoms (e.g. tremor, muscle rigidity, bradykinesia, postural instability) of Parkinson's disease (PD). It is generally agreed that replacing these neurons will provide better motor symptom relief and fewer side effects than current pharmacotherapies. One potential approach to this is up-regulating endogenous DA neurogenesis in SNc. In the present study, we conducted bioinformatics analyses to identify signalling pathways that control expression of Pax6 and Msx1 genes, which have been identified as potentially important neurogenic regulators in the adult midbrain...
April 22, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28434004/what-do-medical-students-know-about-deep-brain-stimulation
#13
Andreas Wloch, Assel Saryyeva, Hans E Heissler, Christoph Schrader, H Holger Capelle, Joachim K Krauss
BACKGROUND: Deep brain stimulation (DBS) is an established therapy for movement disorders. It is currently under investigation in neuropsychiatric disorders. Neurophobia is a common phenomenon that might have a negative impact in medical education. Little is known about medical students' knowledge about DBS when they enter university and what they learn about it during their medical formation. METHODS: A 10-item questionnaire was designed. Questions addressed indications for DBS, costs of DBS, complications, the percentage of Parkinson disease (PD) patients who might profit from DBS, etc...
April 22, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28433987/radiofrequency-lesions-through-deep-brain-stimulation-electrodes-in-movement-disorders-case-report-and-review-of-the-literature
#14
Javier Pérez-Suárez, Cristina V Torres Díaz, Lydia López Manzanares, Marta Navas García, Jesús Pastor, Patricia Barrio Fernández, Rafael G de Sola
BACKGROUND: Although there are few reports of radiofrequency lesions performed through deep brain stimulation (DBS) electrodes in patients with movement disorders, experience with this method is scarce. METHODS: We present 2 patients who had been previously treated with DBS of subthalamic nuclei (STN) and the ventral intermediate (VIM) nucleus of the thalamus for Parkinson's disease and essential tremor, respectively, and underwent a radiofrequency lesion through their DBS electrodes after developing a hardware infection...
April 22, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28433105/symptomatic-treatment-of-neurologic-symptoms-in-wilson-disease
#15
Tomasz Litwin, Petr Dušek, Anna Członkowska
Wilson disease (WD) is a potentially treatable neurodegenerative disorder. In the majority of cases, treatment with drugs that induce a negative copper balance (usually chelators or zinc salts) leads to improvements in liver function and neurologic signs. However, some patients show severe neurologic symptoms at diagnosis, such as tremor, dystonia, parkinsonism, and chorea. In this patient group, some neurologic deficits may persist despite adequate treatment, and further neurologic deterioration may be observed after treatment initiation...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433096/wilson-disease-neurologic-features
#16
Anna Członkowska, Tomasz Litwin, Grzegorz Chabik
Wilson disease (WD) is a neurodegenerative disorder, which presents as a spectrum of neurologic manifestations that includes tremor, bradykinesia, rigidity, dystonia, chorea, dysarthria, and dysphagia, together with a combination of neurologic symptoms that can easily lead to misdiagnosis. An early diagnosis of WD, and appropriate anticopper treatment, usually leads to a marked improvement in patient health. Conversely, delayed diagnosis can result in persistent pathology, which, left untreated, can ultimately prove lethal...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28431829/utility-of-the-new-movement-disorder-society-clinical-diagnostic-criteria-for-parkinson-s-disease-applied-retrospectively-in-a-large-cohort-study-of-recent-onset-cases
#17
Naveed Malek, Michael A Lawton, Katherine A Grosset, Nin Bajaj, Roger A Barker, Yoav Ben-Shlomo, David J Burn, Tom Foltynie, John Hardy, Huw R Morris, Nigel M Williams, Nicholas Wood, Donald G Grosset
OBJECTIVE: To examine the utility of the new Movement Disorder Society (MDS) diagnostic criteria in a large cohort of Parkinson's disease (PD) patients. METHODS: Recently diagnosed (<3.5 years) PD cases fulfilling United Kingdom (UK) brain bank criteria in Tracking Parkinson's, a UK multicenter prospective natural history study were assessed by retrospective application of the MDS criteria. RESULTS: In 2000 cases, 1835 (91.7%) met MDS criteria for PD, either clinically established (n = 1261, 63...
April 12, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28431779/propranolol
#18
Abdulrahman A Al-Majed, Ahmed H H Bakheit, Hatem A Abdel Aziz, Fahad M Alajmi, Haitham AlRabiah
Propranolol is a noncardioselective β-blocker. It is reported to have membrane-stabilizing properties, but it does not own intrinsic sympathomimetic activity. Propranolol hydrochloride is used to control hypertension, pheochromocytoma, myocardial infarction, cardiac arrhythmias, angina pectoris, and hypertrophic cardiomyopathy. It is also used to control symptoms of sympathetic overactivity in the management of hyperthyroidism, anxiety disorders, and tremor. Other indications cover the prophylaxis of migraine and of upper gastrointestinal bleeding in patients with portal hypertension...
2017: Profiles of Drug Substances, Excipients, and related Methodology
https://www.readbyqxmd.com/read/28431624/opsoclonus-myoclonus-ataxia-associated-with-west-nile-virus-infection-a-dramatic-presentation-with-benign-prognosis
#19
Roy Zaltzman, Colin Klein, Carlos R Gordon
Opsoclonus myoclonus and ataxia is a combination of severe neurological signs associated with several pathologic agents and conditions. Only few cases of opsoclonus have been related to West Nile virus infection. We report on a 61-year-old woman and on a 55-year-old man who had history of recent fever, who were hospitalized because of acute severe truncal ataxia, opsoclonus and tremor with minimal myoclonic jerks. A through work-up revealed the presence of both IgM and IgG antibodies against West Nile virus both in the serum and Cerebrospinal Fluid and excluded other causes known to be associated with this combination of neurological signs...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28428905/deep-brain-stimulation-target-selection-in-an-advanced-parkinson-s-disease-patient-with-significant-tremor-and-comorbid-depression
#20
Amar S Patel
CLINICAL VIGNETTE: A 67-year-old female with advanced Parkinson's disease (PD), medically refractory tremor, and a history of significant depression presented for evaluation of deep brain stimulation (DBS) candidacy. CLINICAL DILEMMA: Traditionally, the subthalamic nucleus (STN) has been preferred over the globus pallidus interna (GPi) as a DBS target for PD patients with levodopa-responsive fluctuations in rigidity and akinesia, for whom tremor is also a significant source of impairment...
2017: Tremor and Other Hyperkinetic Movements
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