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Intention Tremor

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https://www.readbyqxmd.com/read/29453961/repeat-associated-non-aug-ran-translation-and-other-molecular-mechanisms-in-fragile-x-tremor-ataxia-syndrome
#1
M Rebecca Glineburg, Peter K Todd, Nicolas Charlet-Berguerand, Chantal Sellier
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset inherited neurodegenerative disorder characterized by progressive intention tremor, gait ataxia and dementia associated with mild brain atrophy. The cause of FXTAS is a premutation expansion, of 55 to 200 CGG repeats localized within the 5'UTR of FMR1. These repeats are transcribed in the sense and antisense directions into mutants RNAs, which have increased expression in FXTAS. Furthermore, CGG sense and CCG antisense expanded repeats are translated into novel proteins despite their localization in putatively non-coding regions of the transcript...
February 14, 2018: Brain Research
https://www.readbyqxmd.com/read/29415689/reasons-for-lithium-discontinuation-in-men-and-women-with-bipolar-disorder-a-retrospective-cohort-study
#2
Louise Öhlund, Michael Ott, Sofia Oja, Malin Bergqvist, Robert Lundqvist, Mikael Sandlund, Ellinor Salander Renberg, Ursula Werneke
BACKGROUND: Lithium remains first choice as maintenance treatment for bipolar affective disorder. Yet, about half of all individuals may stop their treatment at some point, despite lithium's proven benefits concerning the prevention of severe affective episodes and suicide. METHODS: Retrospective cohort study in the Swedish region of Norrbotten into the causes of lithium discontinuation. The study was set up to (1) test whether patients with bipolar affective disorder or schizoaffective disorder, treated with lithium maintenance therapy, were more likely to discontinue lithium because of adverse effects than lack of therapeutic effectiveness, (2) explore gender differences, (3) understand the role of diagnosis and (4) identify who, patient or doctor, took the initiative to stop lithium...
February 7, 2018: BMC Psychiatry
https://www.readbyqxmd.com/read/29245230/injury-of-the-cortico-ponto-cerebellar-tract-in-a-patient-with-mild-traumatic-brain-injury-a-case-report
#3
Sung Ho Jang, Hyeok Gyu Kwon
RATIONALE: We report on a patient with injury of the cortico-ponto-cerebellar tract (CPCT) following mild traumatic brain injury (TBI), diagnosed by diffusion tensor tractography (DTT). PATIENT CONCERNS: A 53-year-old female patient was injured in a car crash. While under treatment at a local medical center for headache, mild motor weakness, and cognitive impairment that developed following the car crash, she fell, hitting her head on the ground, about six weeks after the car crash...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29237663/progressive-myoclonic-epilepsy-and-horizontal-gaze-palsy-a-rare-aetiology
#4
Rajveer Singh, Aditya Choudhary, Amith S Kumar, Manoj Kumar Goyal
Gaucher's disease is a rare autosomal recessive, potentially fatal disorder but most common type among lysosomal storage disorders. The disease's incidence is around 1/40 000 to 1/60 000 births in the general population. A 32-year-old man, born out of non-consanguineous union, presented with generalised tonic-clonic seizures and myoclonus since 17 years of age. Seizures were noted to be resistant to multiple epileptic drugs. He developed gait imbalance, intentional tremor and dysarthria. Detailed examination revealed hepatosplenomegaly, bilateral pancerebellar signs with normal power, reflexes and sensory system...
December 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29223504/potential-pathogenic-mechanisms-underlying-fragile-x-tremor-ataxia-syndrome-ran-translation-and-or-rna-gain-of-function
#5
REVIEW
Manon Boivin, Rob Willemsen, Renate K Hukema, Chantal Sellier
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disease caused by an expansion of 55-200 CGG repeats located in the FMR1 gene. The main clinical and neuropathological features of FXTAS are progressive intention tremor and gait ataxia associated with brain atrophy, neuronal cell loss and presence of ubiquitin-positive intranuclear inclusions in both neurons and astrocytes. At the molecular level, FXTAS is characterized by increased expression of FMR1 sense and antisense RNA containing expanded CGG or GGC repeats, respectively...
December 6, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29214523/haematopoietic-stem-cell-transplantation-arrests-the-progression-of-neurodegenerative-disease-in-late-onset-tay-sachs-disease
#6
Karolina M Stepien, Su Han Lum, J Edmond Wraith, Christian J Hendriksz, Heather J Church, David Priestman, Frances M Platt, Simon Jones, Ana Jovanovic, Robert Wynn
Tay-Sachs disease is a rare metabolic disease caused by a deficiency of hexosaminidase A that leads to accumulation of GM2 gangliosides predominantly in neural tissue. Late-onset Tay-Sachs disease variant is associated with a higher level of residual HexA activity. Treatment options are limited, and there are a few described cases who have undergone haematopoietic stem cell transplantation (HSCT) with variable outcome.We describe a case of a 23-year-old male patient who presented with a long-standing tremor since 7 years of age...
December 7, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29204277/cytomegalovirus-mononucleosis-induced-thyroiditis-in-an-immunocompetent-patient
#7
V Larouche, M Tamilia
Enteroviruses, including coxsackieviruses and Echovirus, are well known pathogens responsible for the development of thyroiditis. We describe the case of a 49-year-old woman with no personal or family history of thyroid disease who presented to the emergency room with a two-week history of daily fevers up to 39°C, a sore throat, occasional palpitations and diaphoresis, decreased appetite and an unintentional 10 kg weight loss over the same time course Physical examination revealed mild tachycardia, an intention tremor and a normal-sized, nontender thyroid gland without palpable nodules...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29084313/safety-and-efficacy-of-focused-ultrasound-thalamotomy-for-patients-with-medication-refractory-tremor-dominant-parkinson-disease-a-randomized-clinical-trial
#8
Aaron E Bond, Binit B Shah, Diane S Huss, Robert F Dallapiazza, Amy Warren, Madaline B Harrison, Scott A Sperling, Xin-Qun Wang, Ryder Gwinn, Jennie Witt, Susie Ro, W Jeffrey Elias
Importance: Clinical trials have confirmed the efficacy of focused ultrasound (FUS) thalamotomy in essential tremor, but its effectiveness and safety for managing tremor-dominant Parkinson disease (TDPD) is unknown. Objective: To assess safety and efficacy at 12-month follow-up, accounting for placebo response, of unilateral FUS thalamotomy for patients with TDPD. Design, Setting, and Participants: Of the 326 patients identified from an in-house database, 53 patients consented to be screened...
December 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/29068990/aggravation-of-an-injured-dentato-rubro-thalamic-tract-in-a-patient-with-mild-traumatic-brain-injury-a-case-report
#9
Sung Ho Jang, Hyeok Gyu Kwon
RATIONALE: We report on a patient with mild traumatic brain injury (TBI) by follow-up diffusion tensor tractography (DTT), and observed for approximately nine monthsby serial diffusion tensor tractography (DTT). PATIENT CONCERNS: A 66-year-old male patient was injured in a car crash. Approximately four weeks after the crash, he developed a tremor in the right hand and leg. His symptoms worsened over time. DIAGNOSES: Approximately six months after the crash, he developed a mild tremor in the left hand...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29058268/early-diagnosed-cerebrotendinous-xanthomatosis-patients-clinical-neuroradiological-characteristics-and-therapy-results-of-a-single-center-from-turkey
#10
Tanyel Zubarioglu, Ertugrul Kiykim, Gozde Yesil, Duhan Demircioglu, Mehmet Serif Cansever, Cengiz Yalcinkaya, Cigdem Aktuglu-Zeybek
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder caused by defective sterol 27-hydroxylase activity. In spite of subtle clinical signs beginning from childhood, CTX is generally diagnosed lately. The aim of this study is to evaluate clinical, neuroradiological findings and therapy responses of pediatric CTX patients and raise awareness to early features of disease. Patients who were molecularly diagnosed as CTX before 18 years of age were included in study. Clinical, epidemiological, radiological and genotypic features of patients and chenodeoxycholic acid (CDCA) therapy responses were reviewed retrospectively...
October 22, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28940924/main-artifacts-in-electrocardiography
#11
REVIEW
Andrés Ricardo Pérez-Riera, Raimundo Barbosa-Barros, Rodrigo Daminello-Raimundo, Luiz Carlos de Abreu
Electrocardiographic artifacts are defined as electrocardiographic alterations, not related to cardiac electrical activity. As a result of artifacts, the components of the electrocardiogram (ECG) such as the baseline and waves can be distorted. Motion artifacts are due to shaking with rhythmic movement. Examples of motion artifacts include tremors with no evident cause, Parkinson's disease, cerebellar or intention tremor, anxiety, hyperthyroidism, multiple sclerosis, and drugs such as amphetamines, xanthines, lithium, benzodiazepines, or shivering (due to hypothermia, fever (rigor due to shaking), cardiopulmonary resuscitation by chest compression (oscillations of great amplitude) and patients who move their limbs during the test, causing sudden irregularities in the ECG baseline that may resemble premature contractions or interfere with ECG wave shapes, or other supraventricular and ventricular arrhythmias...
September 20, 2017: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/28933707/high-accuracy-automatic-classification-of-parkinsonian-tremor-severity-using-machine-learning-method
#12
Hyoseon Jeon, Woongwoo Lee, Hyeyoung Park, Hong Ji Lee, Sang Kyong Kim, Han Byul Kim, Beomseok Jeon, Kwang Suk Park
MOTIVATION: Although clinical aspirations for new technology to accurately measure and diagnose Parkinsonian tremors exist, automatic scoring of tremor severity using machine learning approaches has not yet been employed. OBJECTIVE: This study aims to maximize the scientific validity of automatic tremor-severity classification using machine learning algorithms to score Parkinsonian tremor severity in the same manner as the unified Parkinson's disease rating scale (UPDRS) used to rate scores in real clinical practice...
October 31, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28772275/deep-brain-stimulation-for-tremor-is-there-a-common-structure
#13
Michael Fiechter, Andreas Nowacki, Markus F Oertel, Jens Fichtner, Ines Debove, M Lenard Lachenmayer, Roland Wiest, Claudio L Bassetti, Andreas Raabe, Alain Kaelin-Lang, Michael W Schüpbach, Claudio Pollo
BACKGROUND: Subthalamic nucleus (STN) stimulation has been recognized to control resting tremor in Parkinson disease. Similarly, thalamic stimulation (ventral intermediate nucleus; VIM) has shown tremor control in Parkinson disease, essential, and intention tremors. Recently, stimulation of the posterior subthalamic area (PSA) has been associated with excellent tremor control. Thus, the optimal site of stimulation may be located in the surrounding white matter. AIMS: The objective of this work was to investigate the area of stimulation by determining the contact location correlated with the best tremor control in STN/VIM patients...
2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28750785/cerebellar-cortical-abiotrophy-in-young-labrador-retrievers
#14
Chandreyee Sen, Ashwani Kumar Sharma, Charanjit Singh Randhawa, Kuldip Gupta
Cerebellar abiotrophy is a hereditary degenerative disorder of the central nervous system in humans and animals. Four male and one female Labrador-retriever pups were presented with clinical signs of head swaying with intention tremor, loss of target oriented movement, wide base stance, forelimb hypermetria, and hindlimb ataxia leading to falling off during ambulation. On histopathologic examination of cerebellum, cerebellar cortical abiotrophy was confirmed with extensive loss of Purkinje cells, diminution of granular layer, relative thickening and foliar gliosis in white matter...
March 2017: Topics in Companion Animal Medicine
https://www.readbyqxmd.com/read/28737365/vim-thalamotomy-in-the-treatment-of-holmes-tremor-secondary-to-hiv-associated-midbrain-lesion-a-case-report
#15
José O Oliveira, Soraya A Jorge Cecilio, Matheus Fernandes Oliveira, Leonardo R Takahashi, Alexandro R Galassi, Vanessa M Holanda, José M Rotta
Holmes' tremor (rubral tremor, cerebellar outflow tremor) is characterized by rest, intention and postural tremor, often localized to one upper extremity, associated with ipsilateral dysmetria and dysdiadochokinesia. We describe a case of successful treatment of Holmes' tremor with unilateral nucleus ventralis intermedius (VIM) thalamotomy. The subject is a 43-year-old woman with unremarkable previous medical history. She presented with complete left hemiparesis in the context of human immunodeficiency syndrome and the magnetic resonance image disclosed a contrast-enhancing lesion in right brain peduncle, in topography of red nucleus...
October 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/28705742/an-acute-oral-intoxication-with-haloperidol-decanoate
#16
Bart G J Dekkers, Ruben J Eck, Jan C Ter Maaten, Daniël J Touw
Haloperidol decanoate is a typical antipsychotic drug used as maintenance therapy for schizophrenia and mood disorders formulated as an ester for intramuscular injection. Cases of oral haloperidol decanoate intoxications have not been described in literature. In this report, we present for the first time a case of an oral ingestion of haloperidol decanoate of a young woman who presented to the emergency department following an intentional oral ingestion of 1 ampoule of haloperidol decanoate 100mg. At presentation, she had a bilateral rest tremor of both hands and mild hypothermia...
September 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28673510/eye-movements-in-essential-tremor-patients-with-parkinsonian-and-cerebellar-signs
#17
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...
July 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28665251/stereotactic-radiosurgery-for-medically-refractory-multiple-sclerosis-related-tremor
#18
Sudesh S Raju, Ajay Niranjan, Edward A Monaco, John C Flickinger, L Dade Lunsford
OBJECTIVE Multiple sclerosis (MS) is a neurodegenerative disease that can lead to severe intention tremor in some patients. In several case reports, conventional radiotherapy has been reported to possibly exacerbate MS. Radiosurgery dramatically limits normal tissue irradiation to potentially avoid such a problem. Gamma Knife thalamotomy (GKT) has been established as a minimally invasive technique that is effective in treating essential tremor and Parkinson's disease-related tremor. The goal in this study was to analyze the outcomes of GKT in patients suffering from medically refractory MS-related tremor...
June 30, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28644257/holmes-tremor-secondary-to-cerebellopontine-angle-epidermoid-cyst
#19
Sanjay Pandey
Holmes' tremor is characterized by a combination of rest, postural, and intention tremor. Tremor is predominantly proximal and more severe during posture; however, the tremor frequency is usually <4 Hz on surface electromyography. We report Holmes' tremor in a patient secondary to cerebellopontine angle epidermoid cyst.
July 2017: Neurologist
https://www.readbyqxmd.com/read/28642125/safety-and-efficacy-of-dual-lead-thalamic-deep-brain-stimulation-for-patients-with-treatment-refractory-multiple-sclerosis-tremor-a-single-centre-randomised-single-blind-pilot-trial
#20
RANDOMIZED CONTROLLED TRIAL
Seth F Oliveria, Ramon L Rodriguez, Dawn Bowers, Daniel Kantor, Justin D Hilliard, Erin H Monari, Bonnie M Scott, Michael S Okun, Kelly D Foote
BACKGROUND: Efficacy in previous studies of surgical treatments of refractory multiple sclerosis tremor using lesioning or deep brain stimulation (DBS) has been variable. The aim of this study was to investigate the safety and efficacy of dual-lead thalamic DBS (one targeting the ventralis intermedius-ventralis oralis posterior nucleus border [the VIM lead] and one targeting the ventralis oralis anterior-ventralis oralis posterior border [the VO lead]) for the treatment of multiple sclerosis tremor...
September 2017: Lancet Neurology
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