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Parkinson's Disease, neurology, movement disorder

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https://www.readbyqxmd.com/read/29332070/pathophysiologic-basis-of-movement-disorders
#1
Thomas Wichmann
Movement disorders are common and functionally disabling neurologic diseases. Studies over the last decades have investigated the pathophysiology of these diseases in considerable detail, leading to significant insights into their generation of motor disability. While genetically and clinically heterogeneous, most of them are accompanied by prominent and characteristic changes in firing rates and patterns in the basal ganglia, thalamus, and cortex. In recent years, researchers have placed increasing emphasis on the importance of oscillatory changes in firing in these structures, and have discovered that brain areas that were previously considered to be remote from the basal ganglia (such as the cerebellum and the pedunculopontine nucleus) are also highly significant in these disorders...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29332008/leg-stereotypy-syndrome-phenomenology-and-prevalence
#2
Mitesh Lotia, Michele K York, Adriana M Strutt, Joseph Jankovic
OBJECTIVES: To describe the phenomenology and prevalence of leg stereotypy syndrome (LSS), characterised chiefly by repetitive, rhythmical, stereotypic leg movement, especially when sitting. METHODS: We sought to characterise LSS in two groups of subjects: (1) general population (GP) group, defined as individuals accompanying patients during their visits to Baylor College of Medicine Parkinson's Disease Center and Movement Disorders Clinic who are not genetically related to the patients; and (2) movement disorders (MD) group, composed of consecutive patients with diagnoses of restless legs syndrome, Parkinson's disease, Tourette syndrome and tardive dyskinesia...
January 13, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29316780/psen1-p-met233val-in-a-complex-neurodegenerative-movement-and-neuropsychiatric-disorder
#3
Silke Appel-Cresswell, Ilaria Guella, Anna Lehman, Dean Foti, Matthew J Farrer
Mutations in presenilin 1 (PSEN1) are the most common cause of autosomal dominant Alzheimer's disease. Here, we report a Canadian-Vietnamese family carrying a PSEN1 p.Met233Val mutation with an exceptionally early and severe presentation that includes a wide range of atypical symptoms, including prominent ataxia, Parkinsonism, spasticity, dystonia, action tremor, myoclonus, bulbar symptoms, seizures, hallucinations and behavioral changes. Whole-exome sequencing (WES) was performed on the affected proband after many assessments over several years proved diagnostically inconclusive...
January 11, 2018: Journal of Movement Disorders
https://www.readbyqxmd.com/read/29297596/neuropathology-of-autonomic-dysfunction-in-synucleinopathies
#4
REVIEW
Elizabeth A Coon, Jeremy K Cutsforth-Gregory, Eduardo E Benarroch
The synucleinopathies-Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, and pure autonomic failure-result from distinct patterns of abnormal α-synuclein aggregation throughout the nervous system. Autonomic dysfunction in these disorders results from variable involvement of the central and peripheral autonomic networks. The major pathologic hallmark of Parkinson's disease and dementia with Lewy bodies is Lewy bodies and Lewy neurites; of multiple system atrophy, oligodendroglial cytoplasmic inclusions; and of pure autonomic failure, peripheral neuronal cytoplasmic inclusions...
January 3, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29249681/more-than-ataxia-movement-disorders-in-ataxia-telangiectasia
#5
REVIEW
Hélio Afonso Ghizoni Teive, Carlos Henrique Ferreira Camargo, Renato Puppi Munhoz
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease caused by mutations in the ATM gene with progressive neurological dysfunction, multisystem abnormalities and cancer predisposition. Classically, AT is associated with cerebellar ataxia, oculocutaneous telangiectasia and oculomotor apraxia. The aim of this review is to describe the movement disorders observed in patients with AT. Movement disorders in AT patients described in the literature are reviewed. The selected articles were analyzed with a focus on clinical presentation, presence of movement disorders, and atypical cases or variants of the syndrome...
December 12, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29228074/a-review-of-the-current-therapies-challenges-and-future-directions-of-transcranial-focused-ultrasound-technology-advances-in-diagnosis-and-treatment
#6
Vibhor Krishna, Francesco Sammartino, Ali Rezai
Importance: Magnetic resonance imaging-guided focused ultrasound ablation has been approved for the treatment of refractory essential tremor and is being studied for other neurological indications, including dyskinesias and tremor in Parkinson disease, dystonia, neuropathic pain, obsessive-compulsive disorder, epilepsy, and brain tumors. Objective: To review the scientific foundations of FUS technology, existing neurological applications, and future advances. Evidence Review: PubMed was searched for the past 10 years using the terms "transcranial ultrasound," "focused ultrasound," and "neurological applications...
December 11, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/29217994/local-fields-in-human-subthalamic-nucleus-track-the-lead-up-to-impulsive-choices
#7
John M Pearson, Patrick T Hickey, Shivanand P Lad, Michael L Platt, Dennis A Turner
The ability to adaptively minimize not only motor but cognitive symptoms of neurological diseases, such as Parkinson's Disease (PD) and obsessive-compulsive disorder (OCD), is a primary goal of next-generation deep brain stimulation (DBS) devices. On the basis of studies demonstrating a link between beta-band synchronization and severity of motor symptoms in PD, the minimization of beta band activity has been proposed as a potential training target for closed-loop DBS. At present, no comparable signal is known for the impulsive side effects of PD, though multiple studies have implicated theta band activity within the subthalamic nucleus (STN), the site of DBS treatment, in processes of conflict monitoring and countermanding...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29204154/mitochondria-a-common-target-for-genetic-mutations-and-environmental-toxicants-in-parkinson-s-disease
#8
REVIEW
Martin P Helley, Jennifer Pinnell, Carolina Sportelli, Kim Tieu
Parkinson's disease (PD) is a devastating neurological movement disorder. Since its first discovery 200 years ago, genetic and environmental factors have been identified to play a role in PD development and progression. Although genetic studies have been the predominant driving force in PD research over the last few decades, currently only a small fraction of PD cases can be directly linked to monogenic mutations. The remaining cases have been attributed to other risk associated genes, environmental exposures and gene-environment interactions, making PD a multifactorial disorder with a complex etiology...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29187333/toward-a-clinic-of-temporality
#9
Thérèse Rivasseau Jonveaux, Martine Batt, Alain Trognon
The discovery of time cells has expanded our knowledge in the field of spatial and temporal information coding and the key role of the hippocampus. The internal clock model complemented with the attentional gate model allows a more in-depth understanding of the perception of time. The motor representation of duration is ensured by the basal ganglia, while the cerebellum synchronizes short duration for the movement. The right prefrontal cortex seemingly intervenes in the handling of temporal information in working memory...
December 1, 2017: Gériatrie et Psychologie Neuropsychiatrie du Vieillissement
https://www.readbyqxmd.com/read/29057844/functional-characterization-of-rare-rab12-variants-and-their-role-in-musician-s-and-other-dystonias
#10
REVIEW
Eva Hebert, Friederike Borngräber, Alexander Schmidt, Aleksandar Rakovic, Ingrid Brænne, Anne Weissbach, Jennie Hampf, Eva-Juliane Vollstedt, Leopold Größer, Susen Schaake, Michaela Müller, Humera Manzoor, Hans-Christian Jabusch, Daniel Alvarez-Fischer, Meike Kasten, Vladimir S Kostic, Thomas Gasser, Kirsten E Zeuner, Han-Joon Kim, Beomseok Jeon, Peter Bauer, Eckart Altenmüller, Christine Klein, Katja Lohmann
Mutations in RAB (member of the Ras superfamily) genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician's dystonia (MD) and writer's dystonia (WD) are task-specific movement disorders, other dystonias persistently affect postures as in cervical dystonia. Little is known about the underlying etiology. Next-generation sequencing revealed a rare missense variant (c.586A>G; p.Ile196Val) in RAB12 in two of three MD/WD families. Next, we tested 916 additional dystonia patients; 512 Parkinson's disease patients; and 461 healthy controls for RAB12 variants and identified 10 additional carriers of rare missense changes among dystonia patients (1...
October 18, 2017: Genes
https://www.readbyqxmd.com/read/29053896/quality-and-reporting-of-guidelines-on-the-diagnosis-and-management-of-dystonia
#11
Gertrúd Tamás, Catarina Abrantes, Anabela Valadas, Péter Radics, Alberto Albanese, Marina A J Tijssen, Joaquim J Ferreira
BACKGROUND: The quality of clinical practice guidelines on dystonia has not yet been assessed. Our aim was to appraise the methodological quality of guidelines worldwide and analyze the consistency of their recommendations. METHODS: We searched for clinical practice guidelines on dystonia diagnosis/treatment in the National Guideline Clearinghouse, PubMed, National Institute for Health and Care Excellence, Guidelines International Network and Web of Science databases...
October 20, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29043906/parkinson-s-disease-and-the-quest-for-preclinical-diagnosis-an-interview-with-professor-werner-poewe
#12
Werner Poewe
Werner Poewe speaks to Laura Dormer, Editorial Director: Professor Werner Poewe is Professor of Neurology and Director of the Department of Neurology at Innsbruck Medical University in Innsbruck, Austria. He held a Residency in Clinical Neurology and Psychiatry at the University of Innsbruck, Austria, from 1977 to 1984. From 1984 to 1985 he teamed up with Gerald Stern and Andrew Lees as a British Council Research Fellow at University College and Middlesex Hospital's Medical School in London to perform clinical studies into levodopa-induced dystonia and pharmacokinetics of levodopa in naive versus L-Dopa treated Parkinson's disease...
October 18, 2017: Neurodegenerative Disease Management
https://www.readbyqxmd.com/read/29037340/-neuropsychiatry-of-movement-disorders
#13
Juan Manuel Orjuela-Rojas, Gustavo Adolfo Barrios Vincos, Melisa Alejandra Martínez Gallego
Movement disorders can be defined as neurological syndromes presenting with excessive or diminished automatic or voluntary movements not related to weakness or spasticity. Both Parkinson's disease (PD) and Huntington's disease (HD) are well-known examples of these syndromes. The high prevalence of comorbid psychiatric symptoms like depression, anxiety, obsessive-compulsive symptoms, hallucinations, delusions, impulsivity, sleep disorders, apathy and cognitive impairment mean that these conditions must be regarded as neuropsychiatric diseases...
October 2017: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/28975044/recent-updates-on-acquired-hepatocerebral-degeneration
#14
REVIEW
Hae-Won Shin, Hee Kyung Park
BACKGROUND: Acquired hepatocerebral degeneration (AHD) refers to a chronic neurological syndrome in patients with advanced hepatobiliary diseases. This comprehensive review focuses on the pathomechanism and neuroimaging findings in AHD. METHODS: A PubMed search was performed using the terms "acquired hepatocerebral degeneration," "chronic hepatocerebral degeneration," "Non-Wilsonian hepatocerebral degeneration," "cirrhosis-related parkinsonism," and "manganese and liver disease...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28958801/large-scale-identification-of-clinical-and-genetic-predictors-of-motor-progression-in-patients-with-newly-diagnosed-parkinson-s-disease-a-longitudinal-cohort-study-and-validation
#15
Jeanne C Latourelle, Michael T Beste, Tiffany C Hadzi, Robert E Miller, Jacob N Oppenheim, Matthew P Valko, Diane M Wuest, Bruce W Church, Iya G Khalil, Boris Hayete, Charles S Venuto
BACKGROUND: Better understanding and prediction of progression of Parkinson's disease could improve disease management and clinical trial design. We aimed to use longitudinal clinical, molecular, and genetic data to develop predictive models, compare potential biomarkers, and identify novel predictors for motor progression in Parkinson's disease. We also sought to assess the use of these models in the design of treatment trials in Parkinson's disease. METHODS: A Bayesian multivariate predictive inference platform was applied to data from the Parkinson's Progression Markers Initiative (PPMI) study (NCT01141023)...
November 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28948077/depression-and-social-phobia-in-essential-tremor-and-parkinson-s-disease
#16
Ligita Smeltere, Vladimirs Kuzņecovs, Renārs Erts
BACKGROUND: Essential tremor (ET) and Parkinson's disease (PD) are the two most common movement disorders, and tremor is the most visible symptom. Comparative study on ET and PD clinical neuropsychiatric symptoms was performed to assess the impact of emotional state on tremor. OBJECTIVES: To investigate the most common psychiatric symptoms (depression, anxiety and social phobia) and their correlations with motor symptoms, especially tremor, in ET and PD patients...
September 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28926496/essential-tremor-parkinson-disease-recognizing-the-differences
#17
Gwyn M Vernon, Cheryl Leiningen, Cathi A Thomas, Susan Rebecca Dunlop
Tremor is a common movement disorder in adults and older adults. There are many different types of tremor and many conditions that present with tremor as a symptom. This article discusses the causes of tremor, and through the use of a case study, helps NPs understand the assessment of tremor and differentiate two common neurologic disorders that can present with tremor: essential tremor and Parkinson disease.
October 18, 2017: Nurse Practitioner
https://www.readbyqxmd.com/read/28906030/pathological-and-immunoblot-analysis-of-phosphorylated-tdp-43-in-sporadic-amyotrophic-lateral-sclerosis-with-pallido-nigro-luysian-degeneration
#18
Akiko Uchino, Mieko Ogino, Junko Takahashi-Fujigasaki, Saori Oonuma, Naomi Kanazawa, Sabine Kajita, Masaaki Ichinoe, Masato Hasegawa, Kazutoshi Nishiyama, Shigeo Murayama
Transactivation response DNA-binding protein 43 kDa (TDP-43) is a key protein of sporadic amyotrophic lateral sclerosis (ALS), and phosphorylated form of TDP-43 (p-TDP-43) is a major pathological protein that accumulates in sporadic ALS. p-TDP-43 is found not only in primary motor neurons, but often propagates to non-motor systems as well. However, pallido-nigro-luysian (PNL) degeneration (PNLD) is rarely associated with ALS. We describe here a 68-year-old ALS patient presenting severe PNLD. He had difficulty walking due to poor movement of his right leg, and was diagnosed as having Parkinson's disease because of akinesia...
September 14, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28887694/contribution-of-auditory-p300-test-to-the-diagnosis-of-mild-cognitive-impairment-in-parkinson-s-disease
#19
Fikriye Tüter Yilmaz, Sehür Siber Özkaynak, Ebru Barçin
Abnormalities in auditory P300 test have been observed in patients with Parkinson's disease (PD). We aimed to investigate whether or not additional electrophysiological tests assist in making the clinical diagnosis of mild cognitive impairment in Parkinson's disease (PD-MCI), and we evaluated P300 changes in patients with non-demented PD and analyzed the correlation between the cognitive features and P300 changes. Twenty patients with PD who had been diagnosed with mild cognitive impairment (PD-MCI group) according to the Movement Disorder Society (MDS) 2012 PD-MCI level II criteria, 21 patients with PD without cognitive impairment (PD-Normal group), and 20 control subjects (control group) who were neurologically normal were examined by the standard auditory oddball paradigm...
September 8, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28882322/who-can-diagnose-parkinson-s-disease-first-role-of-pre-motor-symptoms
#20
REVIEW
Mayela Rodríguez-Violante, Rosalía Zerón-Martínez, Amin Cervantes-Arriaga, Teresa Corona
In 1817, James Parkinson described the disease which bears his name. The disease was defined as a neurological syndrome characterized by tremor, rigidity, and slowness of movements. Almost one hundred years later, degeneration of neurons in the substantia nigra and low levels of dopamine were identified as the putative cause of the disease, thus the disease remained as a pure neurological disorder. In the late 1990s, non-motor symptoms of the disease began to gain interest because of their clinical relevance, as well as for their potential role in broadening the understanding of the pathophysiological mechanisms involved...
April 2017: Archives of Medical Research
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