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Parkinson's Disease, neurology, movement disorder

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https://www.readbyqxmd.com/read/27920671/proceedings-of-the-fourth-annual-deep-brain-stimulation-think-tank-a-review-of-emerging-issues-and-technologies
#1
Wissam Deeb, James J Giordano, Peter J Rossi, Alon Y Mogilner, Aysegul Gunduz, Jack W Judy, Bryan T Klassen, Christopher R Butson, Craig Van Horne, Damiaan Deny, Darin D Dougherty, David Rowell, Greg A Gerhardt, Gwenn S Smith, Francisco A Ponce, Harrison C Walker, Helen M Bronte-Stewart, Helen S Mayberg, Howard J Chizeck, Jean-Philippe Langevin, Jens Volkmann, Jill L Ostrem, Jonathan B Shute, Joohi Jimenez-Shahed, Kelly D Foote, Aparna Wagle Shukla, Marvin A Rossi, Michael Oh, Michael Pourfar, Paul B Rosenberg, Peter A Silburn, Coralie de Hemptine, Philip A Starr, Timothy Denison, Umer Akbar, Warren M Grill, Michael S Okun
This paper provides an overview of current progress in the technological advances and the use of deep brain stimulation (DBS) to treat neurological and neuropsychiatric disorders, as presented by participants of the Fourth Annual DBS Think Tank, which was convened in March 2016 in conjunction with the Center for Movement Disorders and Neurorestoration at the University of Florida, Gainesveille FL, USA. The Think Tank discussions first focused on policy and advocacy in DBS research and clinical practice, formation of registries, and issues involving the use of DBS in the treatment of Tourette Syndrome...
2016: Frontiers in Integrative Neuroscience
https://www.readbyqxmd.com/read/27912057/gut-microbiota-regulate-motor-deficits-and-neuroinflammation-in-a-model-of-parkinson-s-disease
#2
Timothy R Sampson, Justine W Debelius, Taren Thron, Stefan Janssen, Gauri G Shastri, Zehra Esra Ilhan, Collin Challis, Catherine E Schretter, Sandra Rocha, Viviana Gradinaru, Marie-Francoise Chesselet, Ali Keshavarzian, Kathleen M Shannon, Rosa Krajmalnik-Brown, Pernilla Wittung-Stafshede, Rob Knight, Sarkis K Mazmanian
The intestinal microbiota influence neurodevelopment, modulate behavior, and contribute to neurological disorders. However, a functional link between gut bacteria and neurodegenerative diseases remains unexplored. Synucleinopathies are characterized by aggregation of the protein α-synuclein (αSyn), often resulting in motor dysfunction as exemplified by Parkinson's disease (PD). Using mice that overexpress αSyn, we report herein that gut microbiota are required for motor deficits, microglia activation, and αSyn pathology...
December 1, 2016: Cell
https://www.readbyqxmd.com/read/27844283/micrornas-in-cerebrospinal-fluid-as-potential-biomarkers-for-parkinson-s-disease-and-multiple-system-atrophy
#3
Tainá M Marques, H Bea Kuiperij, Ilona B Bruinsma, Anouke van Rumund, Marjolein B Aerts, Rianne A J Esselink, Bas R Bloem, Marcel M Verbeek
Parkinson's disease (PD) and multiple system atrophy (MSA) are both part of the spectrum of neurodegenerative movement disorders and α-synucleinopathies with overlap of symptoms especially at early stages of the disease but with distinct disease progression and responses to dopaminergic treatment. Therefore, having biomarkers that specifically classify patients, which could discriminate PD from MSA, would be very useful. MicroRNAs (miRNAs) regulate protein translation and are observed in biological fluids, including cerebrospinal fluid (CSF), and may therefore have potential as biomarkers of disease...
November 14, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27826740/calcium-channel-antagonists-as-disease-modifying-therapy-for-parkinson-s-disease-therapeutic-rationale-and-current-status
#4
Tara Swart, Michael J Hurley
Parkinson's disease is a disabling hypokinetic neurological movement disorder in which the aetiology is unknown in the majority of cases. Current pharmacological treatments, though effective at restoring movement, are only symptomatic and do nothing to slow disease progression. Electrophysiological, epidemiological and neuropathological studies have implicated CaV1.3 subtype calcium channels in the pathogenesis of the disorder, and drugs with some selectivity for this ion channel (brain-penetrant dihydropyridine calcium channel blockers) are neuroprotective in animal models of the disease...
November 8, 2016: CNS Drugs
https://www.readbyqxmd.com/read/27803826/a-corticobasal-syndrome-variant-of-familial-creutzfeldt-jakob-disease-with-stroke-like-onset
#5
Ján Necpál, Martin Stelzer, Silvia Koščová, Michal Patarák
Creutzfeldt-Jakob disease (CJD) is an untreatable rare human prion disease characterized by rapidly progressive dementia along with various neurological features, including myoclonus and sometimes other movement disorders. The clinical course is typically insidious and rapid, leading to an early death. In general, the most common form is sporadic CJD; however, Slovakia is typical for a high percentage of genetic cases. We present an unusual case report of a 65-year-old man with a sudden, stroke-like onset of motor aphasia with right-sided levodopa unresponsive parkinsonism, alien hand, and other characteristic features of corticobasal syndrome (CBS), with rapid deterioration and death on the 32nd day of the disease...
2016: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/27798135/physiological-and-perceptual-sensory-attenuation-have-different-underlying-neurophysiological-correlates
#6
Clare E Palmer, Marco Davare, James M Kilner
: Sensory attenuation, the top-down filtering or gating of afferent information, has been extensively studied in two fields: physiological and perceptual. Physiological sensory attenuation is represented as a decrease in the amplitude of the primary and secondary components of the somatosensory evoked potential (SEP) before and during movement. Perceptual sensory attenuation, described using the analogy of a persons' inability to tickle oneself, is a reduction in the perception of the afferent input of a self-produced tactile sensation due to the central cancellation of the reafferent signal by the efference copy of the motor command to produce the action...
October 19, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27789132/novel-hyperkinetic-dystonia-like-manifestation-and-neurological-disease-course-of-swedish-gaucher-patients
#7
Maciej Machaczka, Martin Paucar, Cecilia Kämpe Björkvall, Nicholas J C Smith, Timothy M Cox, Lars Forsgren, Per Svenningsson
BACKGROUND: Neuronopathic Gaucher disease type 3 (GD3) is frequent in northern Sweden, whereas GD1 is found throughout the country. In a nation-wide study, we examined neurological manifestations and clinical course in 12 patients with GD3 and 13 patients with GD1. METHODS: The patients were evaluated by standardized neurological assessments. Every sixth month, the GD3 patients were rated with the modified Severity Scoring Tool. At baseline and at the 3years follow-up, patients underwent University of Pennsylvania Smell Identification Test, Montreal Cognitive Assessment and Hospital Anxiety and Depression Scale...
October 21, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27753167/ptrhd1-c2orf79-mutations-lead-to-autosomal-recessive-intellectual-disability-and-parkinsonism
#8
Hamidreza Khodadadi, Luis J Azcona, Vajiheh Aghamollaii, Mir Davood Omrani, Masoud Garshasbi, Shaghayegh Taghavi, Abbas Tafakhori, Gholam Ali Shahidi, Javad Jamshidi, Hossein Darvish, Coro Paisán-Ruiz
INTRODUCTION: Atypical parkinsonism is a neurodegenerative disease that includes diverse neurological and psychiatric manifestations. OBJECTIVES: We aimed to identify the disease-cauisng mutations in a consanguineous family featuring intellectual disability and parkinsonism. METHODS: Full phenotypic characterization, followed by genome-wide single-nucleotide polymorphism genotyping and whole-genome sequencing, was carried out in all available family members...
October 18, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27743838/deep-brain-stimulation-in-rare-inherited-dystonias
#9
Isabelle Beaulieu-Boire, Camila C Aquino, Alfonso Fasano, Yu-Yan Poon, Melanie Fallis, Antony E Lang, Mojgan Hodaie, Suneil K Kalia, Andres Lozano, Elena Moro
BACKGROUND: Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case)...
October 4, 2016: Brain Stimulation
https://www.readbyqxmd.com/read/27742525/validation-of-the-national-institute-of-neurological-disorders-and-stroke-criteria-for-psychosis-in-parkinson-disease
#10
Pedro Caldana Gordon, Maria Sheila G Rocha, Roberta Gomes Kauark, Carlos Daniel Miranda Costa, Maira Okada de Oliveira, Fabio Godinho, Vanderci Borges
OBJECTIVES: Parkinson disease (PD) psychosis is a condition associated with several negative outcomes. Despite its impact, there is a lack of validated diagnostic tools for this condition. In this study, we aim to verify the validity of the proposed NINDS criteria for PD psychosis and explore its possible applications in clinical practice. DESIGN, SETTINGS, PARTICIPANTS: We prospectively selected 104 subjects with idiopathic PD referred to a movement disorder clinic for a cross-sectional evaluation...
August 26, 2016: American Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/27719841/functional-tremor
#11
P Schwingenschuh, G Deuschl
Functional tremor is the commonest reported functional movement disorder. A confident clinical diagnosis of functional tremor is often possible based on the following "positive" criteria: a sudden tremor onset, unusual disease course, often with fluctuations or remissions, distractibility of the tremor if attention is removed from the affected body part, tremor entrainment, tremor variability, and a coactivation sign. Many patients show excessive exhaustion during examination. Other somatizations may be revealed in the medical history and patients may show additional functional neurologic symptoms and signs...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/27712640/importance-of-rapid-eye-movement-sleep-behavior-disorder-to-the-primary-care-physician
#12
Stuart J McCarter, Michael J Howell
Sleep disorders and neurodegenerative diseases are commonly encountered in primary care. A common, but underdiagnosed sleep disorder, rapid eye movement sleep behavior disorder (RBD), is highly associated with Parkinson disease and related disorders. Rapid eye movement sleep behavior disorder is common. It is estimated to affect 0.5% of the general population and more than 7% of individuals older than 60 years; however, most cases go unrecognized. Rapid eye movement sleep behavior disorder presents as dream enactment, often with patients thrashing, punching, and kicking while they are sleeping...
October 2016: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/27692902/dnm3-and-genetic-modifiers-of-age-of-onset-in-lrrk2-gly2019ser-parkinsonism-a-genome-wide-linkage-and-association-study
#13
Joanne Trinh, Emil K Gustavsson, Carles Vilariño-Güell, Stephanie Bortnick, Jeanne Latourelle, Marna B McKenzie, Chelsea Szu Tu, Ekaterina Nosova, Jaskaran Khinda, Austen Milnerwood, Suzanne Lesage, Alexis Brice, Meriem Tazir, Jan O Aasly, Laura Parkkinen, Hazal Haytural, Tatiana Foroud, Richard H Myers, Samia Ben Sassi, Emna Hentati, Fatma Nabli, Emna Farhat, Rim Amouri, Fayçal Hentati, Matthew J Farrer
BACKGROUND: Leucine-rich repeat kinase 2 (LRRK2) mutation 6055G→A (Gly2019Ser) accounts for roughly 1% of patients with Parkinson's disease in white populations, 13-30% in Ashkenazi Jewish populations, and 30-40% in North African Arab-Berber populations, although age of onset is variable. Some carriers have early-onset parkinsonism, whereas others remain asymptomatic despite advanced age. We aimed to use a genome-wide approach to identify genetic variability that directly affects LRRK2 Gly2019Ser penetrance...
November 2016: Lancet Neurology
https://www.readbyqxmd.com/read/27677974/step-sequence-is-a-critical-gait-parameter-of-unilateral-6-ohda-parkinson-s-rat-models
#14
Heather A Baldwin, Pyry P Koivula, Julie C Necarsulmer, Keith W Whitaker, Brandon K Harvey
Parkinson's disease is a progressive neurological disorder, marked by the loss of dopaminergic neurons in the nigrostriatal pathway that leads to abnormal gait, rigidity, slowness of movement, and tremor. The ability to recapitulate and measure such the neurological sequelae in rodent models of Parkinson's disease is important for studying and evaluating potential therapeutics. Individual variability in lesion severity and injury progression are key factors in the 6-hydroxydopamine that require normalization when evaluating therapeutic effects...
September 26, 2016: Cell Transplantation
https://www.readbyqxmd.com/read/27667361/dopa-responsive-dystonia-or-early-onset-parkinson-disease-genotype-phenotype-correlation
#15
Anna Potulska-Chromik, Dorota Hoffman-Zacharska, Małgorzata Łukawska, Anna Kostera-Pruszczyk
OBJECTIVE: Dopa-responsive dystonia (DRD) is a rare form of hereditary movement disorder with onset in childhood, characterized by gait difficulties due to postural dystonia with marked improvement after low doses of levodopa. Mutations in the GCH1 gene are the most common cause of DRD, however, in some cases when the disease is associated with parkinsonism mutations in the PARK2 gene may be identified. The aim of this study was to analyze and compare genotype-phenotype correlation. MATERIAL/PARTICIPANTS: Four families with inter- and intrafamilial variability of progressive gait dysfunction due to lower limb dystonia occurring in childhood or adolescence were included in the analysis...
September 12, 2016: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/27649187/multimodal-learning-and-intelligent-prediction-of-symptom-development-in-individual-parkinson-s-patients
#16
Andrzej W Przybyszewski, Mark Kon, Stanislaw Szlufik, Artur Szymanski, Piotr Habela, Dariusz M Koziorowski
We still do not know how the brain and its computations are affected by nerve cell deaths and their compensatory learning processes, as these develop in neurodegenerative diseases (ND). Compensatory learning processes are ND symptoms usually observed at a point when the disease has already affected large parts of the brain. We can register symptoms of ND such as motor and/or mental disorders (dementias) and even provide symptomatic relief, though the structural effects of these are in most cases not yet understood...
2016: Sensors
https://www.readbyqxmd.com/read/27634470/de-novo-p-arg756cys-mutation-of-atp1a3-causes-an-atypical-form-of-alternating-hemiplegia-of-childhood-with-prolonged-paralysis-and-choreoathetosis
#17
Hikaru Kanemasa, Ryoko Fukai, Yasunari Sakai, Michiko Torio, Noriko Miyake, Sooyoung Lee, Hiroaki Ono, Satoshi Akamine, Kei Nishiyama, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Hirotomo Saitsu, Naomichi Matsumoto, Toshiro Hara
BACKGROUND: Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that manifests recurrent attacks of hemiplegia, oculogyric, and choreoathetotic involuntary movements. De novo mutations in ATP1A3 cause three types of neurological diseases: AHC; rapid-onset dystonia-Parkinsonism (RDP); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndromes. It remains to be determined whether or not a rare mutation in ATP1A3 may cause atypical phenotypes...
September 15, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27623035/impact-of-a-movement-disorders-clinic-on-the-trends-of-parkinson-s-disease-consultations-at-a-tertiary-referral-center
#18
Teresa Corona, Amin Cervantes-Arriaga, Leora Velásquez-Pérez, Mayela Rodríguez-Violante
BACKGROUND: Outpatient clinics for movement disorders provide specialized diagnosis and treatment services for the specific needs of this patient population. OBJECTIVE: Describe the impact of implementing a Movement Disorder Clinic on the trends of consultations per year and hospitalizations of subjects with Parkinson's disease at a tertiary referral center. METHODS: A retrospective study was carried out. We collected data from the Clinical File Archive and the Epidemiology Department at the National Institute of Neurology and Neurosurgery in Mexico...
July 2016: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
https://www.readbyqxmd.com/read/27595007/cerebellar-transcranial-direct-current-stimulation-in-neurological-disease
#19
REVIEW
Roberta Ferrucci, Tommaso Bocci, Francesca Cortese, Fabiana Ruggiero, Alberto Priori
Several studies have highlighted the therapeutic potential of transcranial direct current stimulation (tDCS) in patients with neurological diseases, including dementia, epilepsy, post-stroke dysfunctions, movement disorders, and other pathological conditions. Because of this technique's ability to modify cerebellar excitability without significant side effects, cerebellar tDCS is a new, interesting, and powerful tool to induce plastic modifications in the cerebellum. In this report, we review a number of interesting studies on the application of cerebellar tDCS for various neurological conditions (ataxia, Parkinson's disease, dystonia, essential tremor) and the possible mechanism by which the stimulation acts on the cerebellum...
2016: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/27579582/assessing-and-treating-pain-in-movement-disorders-amyotrophic-lateral-sclerosis-severe-acquired-brain-injury-disorders-of-consciousness-dementia-oncology-and-neuroinfectivology-evidence-and-recommendations-from-the-italian-consensus-conference-on-pain-in-neurorehabilitation
#20
Michelangelo Bartolo, Adriano CHIò, Sergio Ferrari, Cristina Tassorelli, Stefano Tamburin, Micol Avenali, Eva Azicnuda, Andrea Calvo, Augusto T Caraceni, Giovanni Defazio, Roberto DE Icco, Rita Formisano, Simone Franzoni, Elena Greco, Iwona Jedrychowska, Francesca Magrinelli, Umberto Manera, Enrico Marchioni, Sara Mariotto, Salvatore Monaco, Andrea Pace, Donatella Saviola, Isabella Springhetti, Michele Tinazzi, Antonio DE Tanti
BACKGROUND: Pain is an important non-motor symptom in several neurological diseases, such as Parkinson's disease, cervical dystonia, amyotrophic lateral sclerosis, severe acquired brain injury, disorders of consciousness and dementia, as well as in oncology and neuroinfectivology. AIMS: To overcome the lack of evidence-based data on pain management in these diseases, the Italian Consensus Conference on Pain in Neurorehabilitation (ICCPN) defined criteria for good clinical practice among Italian neurorehabilitation professionals...
August 31, 2016: European Journal of Physical and Rehabilitation Medicine
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