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Parkinsonism & related Disorders

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https://www.readbyqxmd.com/read/30528172/neuroimaging-genetic-and-enzymatic-study-in-a-japanese-family-with-a-gba-gross-deletion
#1
Yuta Ichinose, Hiroyuki Ishiura, Masaki Tanaka, Jun Yoshimura, Koichiro Doi, Takako Umeda, Hajime Yamauchi, Mai Tsuchiya, Kishin Koh, Nobuo Yamashiro, Jun Mitsui, Jun Goto, Hiroshi Onishi, Toshihisa Ohtsuka, Kazumasa Shindo, Shinichi Morishita, Shoji Tsuji, Yoshihisa Takiyama
INTRODUCTION: Glucocerebrosidase gene (GBA) variants are associated with Parkinson's disease (PD) and dementia with Lewy bodies (DLB). The molecular mechanisms underlying these diseases with GBA variants, however, are not well understood. In order to determine the effect of a deletion mutation in GBA, we performed a neuroimaging, genetic, and enzymatic study in a Japanese family with a gross deletion of exons 3 to 11 in GBA. METHODS: We performed [123 I] FP-CIT SPECT and [123 I] N-isopropyl-p-iodoamphetamine SPECT (IMP-SPECT), and determined GBA expression and glucocerebrosidase (GCase) activity in leukocytes in two GBA-associated PD patients and nine unaffected individuals (including four mutation carriers) in a Japanese family with a heterozygous gross deletion mutation in the GBA gene...
December 2, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30528461/clinical-and-genetic-characteristics-of-late-onset-huntington-s-disease
#2
Mayke Oosterloo, Emilia K Bijlsma, Sander Mj van Kuijk, Floor Minkels, Christine Em de Die-Smulders
BACKGROUND: The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. OBJECTIVE: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. METHODS: Participants with late- and common-onset (30-50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history...
November 29, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30522958/the-movement-disorder-spectrum-of-sca21-atx-tmem240-3-novel-families-and-systematic-review-of-the-literature
#3
Andreas Traschütz, Judith van Gaalen, Mayke Oosterloo, Maaike Vreeburg, Erik-Jan Kamsteeg, Natalie Deininger, Olaf Rieß, Matthias Reimold, Tobias Haack, Ludger Schöls, Bart P van de Warrenburg, Matthis Synofzik
Spinocerebellar ataxia type 21 (SCA21/ATX-TMEM240) was recently found to be caused by mutations in TMEM240, with still limited knowledge on the phenotypic spectrum and disease course. Here we present five subjects from three novel SCA21 families from different parts of the world (including a novel c.196G > A, p.G66R TMEM240 variant from Colombia), demonstrating that, in addition to cerebellar ataxia, not only hypokinetic features (hypomimia, bradykinesia), but also hyperkinetic movement disorders (poly-mini-myoclonus, proximal myoclonus) are a recurrent part of the phenotypic spectrum of SCA21...
November 29, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30528171/setting-the-record-straight-the-nosology-of-tardive-syndromes
#4
Daniel D Truong, Karen Frei
We propose the use of the term tardive dyskinesia to refer to the original description of repetitive and complex oral-buccal-lingual (OBL) movements and the analogous repetitive movements of the limbs, trunk, or pelvis. The term tardive syndrome is an umbrella term to be used to refer to the spectrum of all persistent hyperkinetic, hypokinetic, and sensory phenomenologies resulting from chronic dopamine receptor blocking agent (DRBA) exposure. TD is a type of TS. The term tardive dystonia (TDyst) should be used when dystonia is the main feature of TS...
November 28, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30527905/thalamic-and-ventricular-volumes-predict-motor-response-to-deep-brain-stimulation-for-parkinson-s-disease
#5
John R Younce, Meghan C Campbell, Joel S Perlmutter, Scott A Norris
BACKGROUND: Brain atrophy frequently occurs with Parkinson's disease (PD) and relates to increased motor symptoms of PD. The predictive value of neuroimaging-based measures of global and regional brain volume on motor outcomes in deep brain stimulation (DBS) remains unclear but potentially could improve patient selection and targeting. OBJECTIVES: To determine the predictive value of preoperative volumetric MRI measures of cortical and subcortical brain volume on motor outcomes of subthalamic nucleus (STN) DBS in PD...
November 28, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30514649/successful-pallidotomy-for-post-hyperglycemic-hemichorea-ballism
#6
LETTER
Philippe De Vloo, David P Breen, Luka Milosevic, Darrin J Lee, Robert F Dallapiazza, William D Hutchison, Anthony E Lang, Andres M Lozano
No abstract text is available yet for this article.
November 28, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30514650/medical-decision-making-in-progressive-supranuclear-palsy-a-comparison-to-other-neurodegenerative-disorders
#7
Adam Gerstenecker, Lacey Grimsley, Brittney Otruba, Linda Cowden, Daniel C Marson, Kristen Triebel Gerstenecker, Roy C Martin, Erik D Roberson
INTRODUCTION: Cognitive dysfunction is common in progressive supranuclear palsy (PSP) but its effect on medical decision-making has not been well studied. To address this gap in the research literature, we compared the medical decision-making capacity of patients with PSP to groups of patients with other neurodegenerative disorders. We also investigated the cognitive correlates of medical decision-making in our PSP sample. METHODS: The sample was composed of 65 participants that belonged to five study groups: 13 with PSP, 13 with PD-MCI, 13 with PDD, 13 with AD, and 13 cognitively healthy controls...
November 26, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30502924/quantification-of-brain-derived-extracellular-vesicles-in-plasma-as-a-biomarker-to-diagnose-parkinson-s-and-related-diseases
#8
Takuma Ohmichi, Masato Mitsuhashi, Harutsugu Tatebe, Takashi Kasai, Omar M Ali El-Agnaf, Takahiko Tokuda
INTRODUCTION: There is still a substantial unmet need for blood-based biomarkers to make an objective diagnosis of Parkinson's disease (PD) and the parkinsonism-plus syndromes. This study is aimed to determine whether enumeration of brain-derived exosomes (BDEs) in plasma is informative in the diagnosis of those diseases. METHODS: We have developed a specific method to enumerate the plasma levels of neuron-derived, astrocyte-derived, and oligodendrocyte-derived exosomes (NDEs, ADEs and ODEs, respectively), and quantified them individually in patients with PD (n = 15), multiple system atrophy (MSA, n = 15), progressive supranuclear palsy (PSP, n = 7) and disease controls (n = 15)...
November 20, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30473187/clonazepam-improves-the-symptoms-of-two-siblings-with-novel-variants-in-the-synj1-gene
#9
Daojun Hong, Lu Cong, Shanshan Zhong, Yang He, Ling Xin, Xuguang Gao, Jun Zhang
BACKGROUND: Mutations in the SYNJ1 gene have been associated with early-onset of atypical Parkinson's disease or severe neurodegeneration with intractable seizures. Due to the rarity of the disease, there were limitations in the quality of available treatment options for SYNJ1-related diseases. METHODS: Two affected siblings from a non-consanguineous family were evaluated through a set of clinical and laboratory tests. The genetic screening was performed through exome next generation sequencing...
November 19, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30509725/stridor-related-gray-matter-alterations-in-multiple-system-atrophy-a-pilot-study
#10
Claudia Testa, Giovanna Calandra-Buonaura, Stefania Evangelisti, Giulia Giannini, Federica Provini, Stefano Ratti, Annagrazia Cecere, Lia Talozzi, David Neil Manners, Raffaele Lodi, Caterina Tonon, Pietro Cortelli
INTRODUCTION: The neuroanatomical substrate of stridor associated with Multiple System Atrophy (MSA) remains unclear. We evaluated stridor-related gray matter (GM) changes in MSA. METHODS: 36 MSA patients underwent standardized nocturnal video-polysomnography and brain MRI. Differences in GM density between MSA patients with and without stridor and a sample of 22 matched healthy controls were evaluated with Voxel Based Morphometry protocol supplemented by a specific tool (SUIT) for analysing infratentorial structures...
November 17, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30522959/tardive-dyskinesia-who-gets-it-and-why
#11
Karen Frei
Tardive dyskinesia (TD) is a potentially permanent movement disorder resulting from chronic use of dopamine receptor blocking agents (DRBA). Identified risk factors include the type of antipsychotic agent, being greater for those of first generation antipsychotics (FGA), the duration of illness and cumulative dose of DRBA and advanced age. Female sex and African and Caucasian ethnicity are additional potential risk factors. Because only a subset of people taking DRBA's develops TD, genetics may play a role...
November 15, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30470656/the-virtual-reality-of-parkinson-s-disease-freezing-of-gait-a-systematic-review
#12
REVIEW
Brent Bluett, Ece Bayram, Irene Litvan
INTRODUCTION: Freezing of gait is an episodic inability to move the feet forward despite the intention to walk. It is a common cause of falls and subsequent morbidity and mortality in Parkinson's disease. Virtual reality paradigms provide an opportunity to safely evaluate freezing of gait, in order to better understand the underlying pathophysiology. This article focuses on the methodology, threshold used to define freezing of gait, results, limitations of studies using virtual reality paradigms, and proposes future directions of research...
November 15, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30466800/diagnostic-biomarkers-for-parkinson-s-disease-focus-on-%C3%AE-synuclein-in-cerebrospinal-fluid
#13
Lorraine V Kalia
Diagnostic biomarkers are measures that detect or confirm the presence of a disease or identify individuals with a subtype of the disease. For Parkinson's disease, unlike other neurodegenerative diseases such as Alzheimer's disease and Creutzfeldt-Jakob disease, diagnostic biomarkers remain elusive as none are yet available or approved for clinical use. A biomarker to diagnose early or prodromal Parkinson's disease with high accuracy would significantly enhance clinical practice as well as advance clinical therapeutic trials...
November 15, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30503748/a-phase-iib-randomised-double-blind-placebo-controlled-dose-ranging-investigation-of-the-safety-and-efficacy-of-ntcell-%C3%A2-immunoprotected-alginate-encapsulated-porcine-choroid-plexus-cells-for-xenotransplantation-in-patients-with-parkinson-s-disease
#14
Barry Snow, Eoin Mulroy, Arnold Bok, Mark Simpson, Andrew Smith, Kenneth Taylor, Michelle Lockhart, Bb Janice Lam, Christopher Frampton, Patrick Schweder, Benson Chen, Gregory Finucane, Adele McMahon, Lorraine Macdonald
INTRODUCTION: Regenerative therapies in Parkinson's disease aim to slow neurodegeneration and re-establish damaged neuronal circuitry. Neurotrophins are potent endogenous regulators of neuronal survival, development and regeneration. They represent an attractive regenerative treatment option in Parkinson's disease. Porcine choroid plexus produces a number of neurotrophins, and can be safely delivered to the striatum in an encapsulated formulation (termed NTCELL® ) to protect them from immune attack...
November 13, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30455156/beta-propeller-protein-associated-neurodegeneration-bpan-the-first-report-of-three-patients-from-iran-with-de-novo-novel-mutations
#15
LETTER
Mohammad Rohani, Alfonso Fasano, Fahimeh Haji Akhoundi, Ghazal Haeri, Anthony E Lang, Mohammad Masoud Rahimi Bidgoli, Leila Javanparast, Babak Zamani, Gholamali Shahidi, Afagh Alavi
No abstract text is available yet for this article.
November 13, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30448099/can-the-gut-be-the-missing-piece-in-uncovering-pd-pathogenesis
#16
Guillaume Chapelet, Laurène Leclair-Visonneau, Thomas Clairembault, Michel Neunlist, Pascal Derkinderen
It is now well established that Parkinson's disease (PD) is not only a movement disorder of the CNS but also a gastrointestinal disorder affecting the enteric nervous system (ENS). The gut-brain axis is a bidirectional communication between the brain and the gastrointestinal tract, which comprises besides the CNS and the ENS, the intestinal epithelial barrier, the intestinal microbiota and the enteroendocrine systems. In this review, we present the clinical and pathological evidence suggesting that the gut-brain axis is dysfunctional in PD by discussing the possible role of gut microbiota, inflammation and permeability in the development of the disease...
November 12, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30455157/parkinson-s-disease-evolution-of-the-scientific-literature-from-1983-to-2017-by-countries-and-journals
#17
REVIEW
C Robert, C S Wilson, R B Lipton, C-D Arreto
This study charts the evolution of the scientific literature on Parkinson's disease (PD) from 1983 to 2017 to inform communities of scientists, physicians, patients, caregivers and politicians concerned with PD. Articles published in journals indexed in the Science Citation Index-Expanded database of the Web of Science were retrieved and analyzed in seven five-year periods: 1983-1987, 1988-1992, 1993-1997, 1998-2002, 2003-2007, 2008-2012 and 2013-2017. Over 35 years the number of research papers on PD increased 33-fold: 885 papers in 1983-1987 to 29,972 in 2013-2017...
November 10, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30470657/combined-action-observation-and-motor-imagery-influences-hand-movement-amplitude-in-parkinson-s-disease
#18
Judith Bek, Emma Gowen, Stefan Vogt, Trevor J Crawford, Ellen Poliakoff
No abstract text is available yet for this article.
November 9, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30455158/the-minimum-clinically-important-difference-mcid-for-a-falls-intervention-in-parkinson-s-a-delphi-study
#19
Emily J Henderson, Gemma S Morgan, Jigisha Amin, Daisy M Gaunt, Yoav Ben-Shlomo
BACKGROUND: Falls are common in Parkinson's disease so any intervention that reduced falls risk would be of value. One potential intervention is the use of cholinesterase inhibitor (ChEi) drugs. OBJECTIVE: To establish the minimum clinically important difference (MCID) for fall rates to inform the effect estimate for sample size calculations of future clinical trials. METHODS: We performed a Delphi study assembling a panel of experts in Parkinson's disease from academic and clinical medicine in order to reach a consensus of opinion...
November 8, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30448096/brain-atrophy-and-strategic-lesion-location-increases-risk-of-parkinsonism-in-cerebral-small-vessel-disease
#20
Mayra I Bergkamp, Anil M Tuladhar, Helena M van der Holst, Esther M C van Leijsen, Mohsen Ghafoorian, Ingeborg W M van Uden, Ewoud J van Dijk, David G Norris, Bram Platel, Rianne A J Esselink, Frank-Erik de Leeuw
INTRODUCTION: Incident parkinsonism in patients with comparable cerebral small vessel disease (SVD) burden is not fully explained by presence of SVD alone. We therefore investigated if severity of SVD, SVD location, incidence of SVD and/or brain atrophy plays a role in this distinct development of parkinsonism. METHODS: Participants were from the RUN DMC study, a prospective cohort of 503 individuals with SVD. Parkinsonism was diagnosed according to the UKPDS brain bank criteria...
November 8, 2018: Parkinsonism & related Disorders
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