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Parkinson's Disease, neurology, movement disorder

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https://www.readbyqxmd.com/read/29057844/functional-characterization-of-rare-rab12-variants-and-their-role-in-musician-s-and-other-dystonias
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28880418/diagnostic-utility-of-cerebrospinal-fluid-%C3%AE-synuclein-in-parkinson-s-disease-a-systematic-review-and-meta-analysis
#12
Paolo Eusebi, David Giannandrea, Leonardo Biscetti, Iosief Abraha, Davide Chiasserini, Massimiliano Orso, Paolo Calabresi, Lucilla Parnetti
BACKGROUND: The accumulation of misfolded α-synuclein aggregates is associated with PD. However, the diagnostic value of the α-synuclein levels in CSF is still under investigation. METHODS: A comprehensive search of the literature was performed, yielding 34 studies eligible for meta-analysis. We included studies that reported data on CSF total, oligomeric and phosphorylated α-synuclein in patients with PD and healthy participants, neurological controls, or other parkinsonisms...
October 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28853633/treatment-gaps-in-parkinson-s-disease-care-in-the-philippines
#13
Roland Dominic G Jamora, Janis M Miyasaki
Neurological services and resources are scarce in low-income and developing countries, such as the Philippines. We looked into the treatment gaps in Parkinson's disease (PD) care in the Philippines in the following areas: epidemiology, healthcare, financial coverage, pharmacotherapy, surgical treatment and manpower. We collected relevant data on the above-mentioned areas. There is no available Philippine data on PD prevalence. Philippine healthcare is paid through user fees at the point of service. The average consultation fee in Manila ranges from US$10...
August 30, 2017: Neurodegenerative Disease Management
https://www.readbyqxmd.com/read/28852889/objective-assessment-of-bradykinesia-estimated-from-the-wrist-extension-in-older-adults-and-patients-with-parkinson-s-disease
#14
Amanda Gomes Rabelo, Lucio Pereira Neves, Ana Paula S Paixão, Fábio Henrique Monteiro Oliveira, Luciane Aparecida Pascucci Sande de Souza, Marcus Fraga Vieira, Adriano A Pereira, Adriano O Andrade
Parkinson's disease (PD) presents several motor signs, including tremor and bradykinesia. However, these signs can also be found in other motor disorders and in neurologically healthy older adults. The incidence of bradykinesia in PD is relatively high in all stages of the disorder, even when compared to tremor. Thus, this research proposes an objective assessment of bradykinesia in patients with PD (G PD: 15 older adults with Parkinson's disease, 65.3 ± 9.1 years) and older adults (G HV: 12 healthy older adults, 60...
August 29, 2017: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/28845923/clinical-rating-scale-for-pantothenate-kinase-associated-neurodegeneration-a-pilot-study
#15
Alejandra Darling, Cristina Tello, María Josep Martí, Cristina Garrido, Sergio Aguilera-Albesa, Miguel Tomás Vila, Itziar Gastón, Marcos Madruga, Luis González Gutiérrez, Julio Ramos Lizana, Montserrat Pujol, Tania Gavilán Iglesias, Kylee Tustin, Jean Pierre Lin, Giovanna Zorzi, Nardo Nardocci, Loreto Martorell, Gustavo Lorenzo Sanz, Fuencisla Gutiérrez, Pedro J García, Lidia Vela, Carlos Hernández Lahoz, Juan Darío Ortigoza Escobar, Laura Martí Sánchez, Fradique Moreira, Miguel Coelho, Leonor Correia Guedes, Ana Castro Caldas, Joaquim Ferreira, Paula Pires, Cristina Costa, Paulo Rego, Marina Magalhães, María Stamelou, Daniel Cuadras Pallejà, Carmen Rodríguez-Blazquez, Pablo Martínez-Martín, Vincenzo Lupo, Leonidas Stefanis, Roser Pons, Carmen Espinós, Teresa Temudo, Belén Pérez Dueñas
BACKGROUND: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration. METHODS: In this international cross-sectional study, patients were examined at the referral centers following a standardized protocol. The motor examination was filmed, allowing 3 independent specialists in movement disorders to analyze 28 patients for interrater reliability assessment...
August 28, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28814874/la-belle-indiff%C3%A3-rence-revisited-a-case-report-on-progressive-supranuclear-palsy-misdiagnosed-as-conversion-disorder
#16
Petra J van Meerkerk-Aanen, Lars de Vroege, David Khasho, Aziza Foruz, J Thies van Asseldonk, Christina M van der Feltz-Cornelis
BACKGROUND: Since the advent of computed tomography and magnetic resonance imaging scans, neurological disorders have less often been falsely labeled as conversion disorder (CD). However, misdiagnosis of a neurological disorder as CD still occurs, especially in cases with insidious onset. Misinterpretation of la belle indifférence may contribute to such misdiagnosis. Here, we describe a case of progressive supranuclear palsy/Richardson's syndrome (PSPS) misdiagnosed as a case of CD. CASE: A 62-year-old woman consulted two different neurologists in 2012 because of falling spells since 2009 and was diagnosed with CD...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28799704/the-nature-consequences-and-management-of-neurological-disorders-in-chronic-kidney-disease
#17
REVIEW
Bahman Jabbari, Nosratola D Vaziri
Perhaps no other organ in the body is affected as often and in as many ways as the brain is in patients with chronic kidney disease (CKD). Several factors contribute to the neurological disorders in CKD including accumulation of uremic toxins, metabolic and hemodynamic disorders, oxidative stress, inflammation, and impaired blood brain barrier among others. The neurological disorders in CKD involve both peripheral and central nervous system. The peripheral neurological symptoms of CKD are due to somatic and cranial peripheral neuropathies as well as a myopathy...
August 11, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28777179/comorbid-sleep-disturbances-in-neurologic-disorders
#18
Yo-El S Ju, Aleksandar Videnovic, Bradley V Vaughn
PURPOSE OF REVIEW: This article provides a review of disturbances of sleep comorbid with common neurologic disorders. RECENT FINDINGS: A wide variety of neurologic disorders are frequently complicated by comorbid sleep disturbances. In many cases, a bidirectional relationship appears to occur between sleep function and the neurologic disease, such that treatment of comorbid sleep disturbances may improve the symptoms of the neurologic disease. SUMMARY: Neurologic disorders are often associated with abnormalities of sleep...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28756176/infection-mediated-autoimmune-movement-disorders
#19
Alberto Cucca, Hamzeh A Migdadi, Alessandro Di Rocco
Infectious diseases remain the most common cause of neurological disability in the world. A number of movement disorders can develop in adults and children in response to infections. These can occur in isolation or as part of a broader neurological illness, with movement abnormalities consequent to an encephalopathy or a broader brain dysfunction. While most infection-related movement disorders are direct consequences of an active infectious process affecting cerebral structures implied in the motor network, at times a delayed immune-mediated process in response to a previous infectious is responsible for the neurological dysfunction...
January 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28748275/head-trauma-and-parkinson-s-disease-results-from-an-italian-case-control-study
#20
Alessandra Nicoletti, Rosario Vasta, Giovanni Mostile, Giuseppe Nicoletti, Gennarina Arabia, Giovanni Iliceto, Paolo Lamberti, Roberto Marconi, Letterio Morgante, Paolo Barone, Aldo Quattrone, Mario Zappia
We evaluated the possible association between head trauma and Parkinson's disease (PD). The FRAGAMP (Fattori di Rischio Ambientali e Genetici Associati alla Malattia di Parkinson) study is a large Italian multicenter case-control study carried out to evaluate the possible role of environmental and genetic factors in PD. Cases and controls were enrolled from six movement disorders centers located in the Central-Southern Italy. A standardized questionnaire was administered to record demographic, epidemiological, and clinical data...
July 26, 2017: Neurological Sciences
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