Angela B Deutschlander, Takuya Konno, Alexandra I Soto-Beasley, Ronald L Walton, Jay A van Gerpen, Ryan J Uitti, Michael G Heckman, Zbigniew K Wszolek, Owen A Ross
OBJECTIVE: To determine whether distinct microtubule-associated protein tau MAPT H1 subhaplotypes are associated with clinical and demographic features in Parkinson's disease. METHODS: A retrospective cohort study included 855 unrelated Caucasian patients with Parkinson's disease who were seen by Movement Disorder specialists at the Mayo Clinic Florida between 1998 and 2016. The primary outcome measures were specific demographic and clinical features of Parkinson's disease, including age at onset, disease progression, survival, motor signs, dementia, dystonia, dyskinesia, autonomic dysfunction, impulse control disorder, psychiatric features, REM sleep behavior disorder, restless legs syndrome, and Parkinson's disease subtype...
August 7, 2020: Annals of Clinical and Translational Neurology
Aline Delva, Donatienne Van Weehaeghe, Michel Koole, Koen Van Laere, Wim Vandenberghe
BACKGROUND: It has been hypothesized that the pathology of Parkinson's disease (PD) primarily affects presynaptic terminals and spreads trans-synaptically. OBJECTIVES: The main objective of this study was to assess the magnitude and anatomical extent of presynaptic terminal loss across the brain in early PD. A second objective was to compare loss of presynaptic terminals and cell bodies within the nigrostriatal tract. METHODS: A total of 30 patients with early PD and 20 age- and gender-matched healthy controls underwent positron emission tomography with 11 C-UCB-J, a ligand for the universal presynaptic terminal marker synaptic vesicle protein 2A (SV2A), and with the dopamine transporter ligand 18 F-FE-PE2I, as well as a detailed clinical assessment...
August 7, 2020: Movement Disorders: Official Journal of the Movement Disorder Society
Roberta Balestrino, Sara Tunesi, Silvana Tesei, Leonardo Lopiano, Anna L Zecchinelli, Stefano Goldwurm
BACKGROUND: Homozygous glucocerebrosidase mutations cause Gaucher disease, whereas heterozygous mutations are the most important genetic risk factor for Parkinson's disease (PD). The penetrance of heterozygous glucocerebrosidase mutations for PD is variable (10%-30%), depends on the population studied, and has only been assessed in Gaucher disease or familial PD. The aim of this study was to assess the penetrance of glucocerebrosidase mutations in PD in unselected PD patients. METHODS: The penetrance of glucocerebrosidase mutations was estimated using the kin-cohort method...
August 7, 2020: Movement Disorders: Official Journal of the Movement Disorder Society
Marta Correa-Vela, Vincenzo Lupo, Marta Montpeyó, Paula Sancho, Anna Marcé-Grau, Jorge Hernández-Vara, Alejandra Darling, Alison Jenkins, Sandra Fernández-Rodríguez, Cristina Tello, Laura Ramírez-Jiménez, Belén Pérez, Ángel Sánchez-Montáñez, Alfons Macaya, María J Sobrido, Marta Martinez-Vicente, Belén Pérez-Dueñas, Carmen Espinós
FBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS). METHODS: We investigated the disease molecular bases in a child with PPS and brain iron accumulation. RESULTS: A novel homozygous c.368C>G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition...
August 6, 2020: Annals of Clinical and Translational Neurology
Dunhui Li, Frank L Mastaglia, Sue Fletcher, Steve D Wilton
Parkinson's disease (PD) is one of the most common neurodegenerative disorders that manifest various motor and nonmotor symptoms. Although currently available therapies can alleviate some of the symptoms, the disease continues to progress, leading eventually to severe motor and cognitive decline and reduced life expectancy. The past two decades have witnessed rapid progress in our understanding of the molecular and genetic pathogenesis of the disease, paving the way for the development of new therapeutic approaches to arrest or delay the neurodegenerative process...
August 6, 2020: Medicinal Research Reviews
Pauline Bosco-Lévy, Angela Grelaud, Patrick Blin, Bernard Astruc, Bruno Falissard, Pierre-Michel Llorca, Marie-Agnès Bernard, Régis Lassalle, Nicholas Moore, Cécile Droz-Perroteau
PURPOSE: To estimate annual incidence and prevalence of Treatment-Resistant Depression (TRD) in France. METHODS: We identified all adult patients (≥ 18 years) with a TRD episode between 1 January 2012 and 31 December 2014 in the EGB (Échantillon généraliste des bénéficiaires), a permanent random sample of the French nationwide claims database. After a 6-month washout period without hospitalization for depression or any antidepressants (AD), and after exclusion of psychotic or bipolar affective disorders, Parkinson's disease and dementia, a TRD episode was defined by three successive sequences of different AD over a 3-month treatment period (6 months for a sensitive analysis), with at least 3 weeks before each sequence change and a Medication Possession Ratio ≥ 80%; or by the dispensing of >two different AD together; or of an AD with a potentiator (lithium, antiepileptic drugs, antipsychotic drugs, thyroid hormones) over the same treatment period...
August 6, 2020: Pharmacoepidemiology and Drug Safety
Jung Eun Yoo, Dong Wook Shin, Wooyoung Jang, Kyungdo Han, Dahye Kim, Hye-Sung Won, Hye Soon Park
There are conflicting finds in the literature regarding the association of female estrogen status and the incidence of Parkinson's disease (PD). We aimed to investigate whether female reproductive factors are associated with PD. Using the Korean National Health Insurance System database, 4,729,546 postmenopausal women without PD were identified. The new incidence of PD was defined as subjects with an ICD-10 code for PD (G20) and with a rare intractable disease registration code for PD (V124). The Cox proportional hazard models were used to evaluate the associations of various reproductive factors with incidence of PD...
August 6, 2020: European Journal of Epidemiology
Jing-Da Qiao, Yu-Ling Mao
Impairment of the dopamine system is the main cause of Parkinson disease (PD). PTEN-induced kinase 1 (PINK1) is possibly involved in pathogenesis of PD. However, its role in dopaminergic neurons has not been fully established yet. In the present investigation, we have used the PINK1 knockout Drosophila model to explore the role of PINK1 in dopaminergic neurons. Electrophysiological and behavioral tests indicated that PINK1 elimination enhances the neural transmission from the presynaptic part of dopaminergic neurons in the protocerebral posterior medial region 3 (PPM3) to PPM3 neurons (which are homologous to those in the substantia nigra in humans)...
August 6, 2020: Invertebrate Neuroscience: IN
Ana Camila Alves de Araújo, Enzo Gabriel da Rocha Santos, Karina Santos Guedes de Sá, Viviane Kharine Teixeira Furtado, Felipe Augusto Santos, Ramon Costa de Lima, Lane Viana Krejcová, Bruno Lopes Santos-Lobato, Gustavo Henrique Lima Pinto, André Dos Santos Cabral, Anderson Belgamo, Bianca Callegari, Ana Francisca Rozin Kleiner, Anselmo de Athayde Costa E Silva, Givago da Silva Souza
The aim of this study is comparing the accuracies of machine learning algorithms to classify data concerning healthy subjects and patients with Parkinson's Disease (PD), toward different time window lengths and a number of features. Thirty-two healthy subjects and eighteen patients with PD took part on this study. The study obtained inertial recordings by using an accelerometer and a gyroscope assessing both hands of the subjects during hand resting state. We extracted time and temporal frequency domain features to feed seven machine learning algorithms: k-nearest-neighbors ( k NN); logistic regression; support vector classifier (SVC); linear discriminant analysis; random forest; decision tree; and gaussian Naïve Bayes...
2020: Frontiers in Bioengineering and Biotechnology
Neil P Larson, Jennifer B Rosenthal, Rachel E Bridwell, Lloyd Tannenbaum, Amber Cibrario
Wolff-Parkinson-White (WPW) syndrome is an uncommon form of cardiac preexcitation due to an underlying structural accessory pathway, which may lead to potentially lethal arrhythmias. Classic electrocardiogram (ECG) findings of WPW include short PR interval, slurred upstroke of the QRS complex, and prolonged QRS duration. However, in intermittent preexcitation, a rare variant in contrast to continuous preexcitation, these findings are not always present, thus masking a diagnosis of WPW syndrome. Consequently, this may adversely affect or delay the appropriate treatment of short-term tachyarrhythmias and long-term definitive therapies for this syndrome...
July 2, 2020: Curēus
Meng-Sha Yao, Li-Che Zhou, Yu-Yan Tan, Hong Jiang, Zhi-Chun Chen, Lin Zhu, Ning-di Luo, Quan-Zhou Wu, Wen-Yan Kang, Jun Liu
To explore the underlying pathogenic mechanism of Parkinson's disease (PD) with concomitant postural abnormalities (PDPA) through the relationship between its gait and brain function characteristics. PD patients from the neurology outpatient clinic at Ruijin Hospital were recruited and grouped according to whether postural abnormalities (including camptocormia and Pisa syndrome) were present. PD-related scale assessments, three-dimensional gait tests and brain resting-state functional magnetic imaging were performed and analyzed...
July 2020: Aging and Disease
Ho Geol Woo, Yoonkyung Chang, Ji Sung Lee, Tae-Jin Song
Introduction: Tooth loss is associated with poor oral hygiene. During insufficient oral sanitation, focal infection and inflammation can occur and these reactions may induce systemic inflammation. Systemic inflammatory reaction may be related to the degeneration of dopamine neurons in the substantia nigra. We hypothesized that tooth loss is related to increased risk of new-onset Parkinson's disease. Methods: Between 2003 and 2006, we included 153,165 participants from the national health insurance system-health screening cohort in Korea...
2020: Parkinson's Disease
Evelien De Groote, Kim De Keyser, Patrick Santens, Durk Talsma, Annelies Bockstael, Dick Botteldooren, Miet De Letter
Research on auditory processing in Parkinson's disease (PD) has recently made substantial progress. At present, evidence has been found for altered auditory processing in the clinical stage of PD. The auditory alterations in PD have been demonstrated with low-cost and non-invasive assessments that are already used in routine clinical practice. Since auditory alterations have been reported early in disease progression, it would be highly relevant to investigate whether auditory markers could be provided in the prodromal stage of PD...
2020: Frontiers in Neurology
Lydia Chougar, Nadya Pyatigorskaya, Bertrand Degos, David Grabli, Stéphane Lehéricy
The diagnosis of Parkinson's disease and atypical Parkinsonism remains clinically difficult, especially at the early stage of the disease, since there is a significant overlap of symptoms. Multimodal MRI has significantly improved diagnostic accuracy and understanding of the pathophysiology of Parkinsonian disorders. Structural and quantitative MRI sequences provide biomarkers sensitive to different tissue properties that detect abnormalities specific to each disease and contribute to the diagnosis. Machine learning techniques using these MRI biomarkers can effectively differentiate atypical Parkinsonian syndromes...
2020: Frontiers in Neurology
Huiyan Yu, Kazutaka Takahashi, Lisa Bloom, Samuel D Quaynor, Tao Xie
The effect of deep brain stimulation (DBS) on swallowing function in movement disorders is unclear. Here, we systematically reviewed this topic by searching keywords following PICOS strategy of problem (swallowing or swallow or dysphagia or aspiration) and intervention (deep brain stimulation, or DBS) in the PubMed and Web of Science in English in April 2020, with comparators [subthalamic nucleus (STN), globus pallidus interna (GPi), ventralis intermedius, (ViM), post-subthalamic area, or caudal zona incerta (PSA/cZi); ON/OFF DBS state/settings, ON/OFF medication state, Parkinson's disease (PD), dystonia, tremor], outcomes (swallowing function measures, subjective/objective) and study types (good quality original studies) in mind...
2020: Frontiers in Neurology
Irene Solés-Tarrés, Núria Cabezas-Llobet, David Vaudry, Xavier Xifró
Cognitive impairment is one of the major symptoms in most neurodegenerative disorders such as Alzheimer's (AD), Parkinson (PD), and Huntington diseases (HD), affecting millions of people worldwide. Unfortunately, there is no treatment to cure or prevent the progression of those diseases. Cognitive impairment has been related to neuronal cell death and/or synaptic plasticity alteration in important brain regions, such as the cerebral cortex, substantia nigra, striatum, and hippocampus. Therefore, compounds that can act to protect the neuronal loss and/or to reestablish the synaptic activity are needed to prevent cognitive decline in neurodegenerative diseases...
2020: Frontiers in Cellular Neuroscience
Steven P Seegobin, George R Heaton, Dongxiao Liang, Insup Choi, Marian Blanca Ramirez, Beisha Tang, Zhenyu Yue
Mutations in the leucine-rich repeat kinase 2 ( LRRK2 ) gene are the most frequent cause of familial Parkinson's disease (PD). Several genetic manipulations of the LRRK2 gene have been developed in animal models such as rodents, Drosophila , Caenorhabditis elegans , and zebrafish. These models can help us further understand the biological function and derive potential pathological mechanisms for LRRK2. Here we discuss common phenotypic themes found in LRRK2 -associated PD animal models, highlight several issues that should be addressed in future models, and discuss emerging areas to guide their future development...
2020: Frontiers in Neuroscience
Gemma Serrano-Heras, Inmaculada Díaz-Maroto, Beatriz Castro-Robles, Blanca Carrión, Ana B Perona-Moratalla, Julia Gracia, Sandra Arteaga, Francisco Hernández-Fernández, Jorge García-García, Oscar Ayo-Martín, Tomás Segura
Background: Improper regulation of apoptosis has been postulated as one of the main factors that contributes to the etiology and/or progression of several prevalent diseases, including ischemic stroke and neurodegenerative pathologies. Consequently, in the last few years, there has been an ever-growing interest in the in vivo study of apoptosis. The clinical application of the tissue sampling and imaging approaches to analyze apoptosis in neurological diseases is, however, limited. Since apoptotic bodies are membrane vesicles that are released from fragmented apoptotic cells, it follows that the presence of these vesicles in the bloodstream is likely due to the apoptotic death of cells in tissues...
2020: Biological Procedures Online
Peter S Spencer
Purpose: To reexamine the etiology of a unique retinal pathology (linear and vermiform sub-retinal tubular structures) described among subjects with and without neurodegenerative disease in former high-incidence foci of Western Pacific amyotrophic lateral sclerosis and parkinsonism-dementia complex (ALS/PDC) in Guam (USA) and the Kii peninsula of Honshu island (Japan). Methods: Analysis of published and unpublished reports of 1) ALS/PDC and the retinal and cerebellar pathology associated therewith and 2) exogenous neurotoxic factors associated with ALS/PDC and the developing retina and cerebellum...
2020: Eye and Brain
Georgios Tsokolas, Konstantinos T Tsaousis, Vasilios F Diakonis, Artemis Matsou, Straton Tyradellis
Background: Optical coherence tomography angiography (OCT-A) has emerged as a novel, fast, safe and non-invasive imaging technique of analyzing the retinal and choroidal microvasculature in vivo. OCT-A captures multiple sequential B-scans performed repeatedly over a specific retinal area at high speed, thus enabling the composition of a vascular map with areas of contrast change (high flow zones) and areas of steady contrast (slow or no flow zones). It therefore provides unique insight into the exact retinal or choroidal layer and location at which abnormal blood flow develops...
2020: Eye and Brain
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