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David G Standaert, David S Geldmacher
No abstract text is available yet for this article.
October 25, 2016: Annals of Neurology
Gabriella de M Abreu, Débora Cristina T Valença, Mário Campos, Camilla P da Silva, João S Pereira, Marco A Araujo Leite, Ana Lucia Rosso, Denise H Nicaretta, Luiz Felipe R Vasconcellos, Delson José da Silva, Marcus V Della Coletta, Jussara M Dos Santos, Andressa P Gonçalves, Cíntia B Santos-Rebouças, Márcia M G Pimentel
INTRODUCTION: Amongst Parkinson's disease (PD) genetic factors, mutations in LRRK2, SNCA, VPS35 and GBA genes are recognized causes of PD. Nonetheless, few genetic screenings have been conducted in families with a history of PD consistent with autosomal dominant inheritance (ADPD), and their relevance to the etiology of PD has been poorly explored in Latin American populations, such as the Brazilian one, with a high degree of admixture. METHODS: In order to assess the contribution of specific mutations in LRRK2, SNCA, VPS35 and GBA genes to ADPD in Brazil, we conducted the first molecular evaluation in a cohort of 141 index cases from families with ADPD...
October 21, 2016: Neuroscience Letters
Matthew Swan, Nancy Doan, Robert A Ortega, Matthew Barrett, William Nichols, Laurie Ozelius, Jeannie Soto-Valencia, Sarah Boschung, Andres Deik, Harini Sarva, Jose Cabassa, Brooke Johannes, Deborah Raymond, Karen Marder, Nir Giladi, Joan Miravite, William Severt, Rivka Sachdev, Vicki Shanker, Susan Bressman, Rachel Saunders-Pullman
Mutations in GBA1 are a well-established risk factor for Parkinson disease (PD). GBA-associated PD (GBA-PD) may have a higher burden of nonmotor symptoms than idiopathic PD (IPD). We sought to characterize the relationship between GBA-PD and neuropsychiatric symptoms. Subjects were screened for common GBA1 mutations. GBA-PD (n=31) and non-carrier (IPD; n=55) scores were compared on the Unified Parkinson Disease Rating Scale (UPDRS), Montreal Cognitive Assessment (MoCA), Beck Depression Inventory (BDI), and the State-Trait Anxiety Index (STAI)...
November 15, 2016: Journal of the Neurological Sciences
Xiaojuan Dan, Chaodong Wang, Jinglin Zhang, Zhuqin Gu, Yongtao Zhou, Jinghong Ma, Piu Chan
INTRODUCTION: Prediction of depression in patients with Parkinson's disease (PD) remains challenging. We investigated whether the common susceptible genetic variants for PD are associated with the risk and improves prediction of development of depression in PD (dPD). METHODS: 1134 individuals with a primary diagnosis of PD were recruited. Demographic information, Unified Parkinson's Disease Rating Scale (UPDRS), and 17-item Hamilton Rating Scale for Depression (HAMD) were obtained...
September 29, 2016: Parkinsonism & related Disorders
Amy C Yang, Louise Bier, Jessica R Overbey, Jessica Cohen-Pfeffer, Khyati Desai, Robert J Desnick, Manisha Balwani
PURPOSE: The overall published experience with pediatric type 1 Gaucher disease (GD1) has been based on ascertainment through clinical presentation of the disease. We describe the longitudinal follow-up in a presymptomatic pediatric cohort. METHODS: The cohort includes children diagnosed with GD1, either prenatally or postnatally by molecular genetic testing, and followed for clinical care at our center from 1998 to 2016. All patients' parents were GBA mutation carriers identified through carrier screening programs...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Cyrus P Zabetian
No abstract text is available yet for this article.
October 10, 2016: JAMA Neurology
Tamara Shiner, Anat Mirelman, Mali Gana Weisz, Anat Bar-Shira, Elissa Ash, Ron Cialic, Naomi Nevler, Tanya Gurevich, Noa Bregman, Avi Orr-Urtreger, Nir Giladi
Importance: Mutations in the glucocerebrosidase (GBA) gene are a risk factor for the development of dementia with Lewy bodies (DLB). These mutations are common among Ashkenazi Jews (AJ) and appear to have an effect on the natural history of the disease. Objectives: To evaluate the clinical and genetic characteristics of an AJ cohort of patients diagnosed with DLB, assess the association of phenotype of DLB with GBA mutations, and explore the effects of these mutations on the clinical course of the disease...
October 10, 2016: JAMA Neurology
O A Gan'kina, E E Vasenina, O S Levin, E Yu Fedotova, S N Illarioshkin
Parkinson's disease (PD) is a common neurodegenerative disease. Literature sources indicate the association of PD and mutations in the glucocerebrosidase A (GBA) gene. According to our study, the frequency of the two most common mutations in the GBA gene, N370S and L444P, is 1.85%. Mutation carriers have slower progression of motor symptoms, but are more likely to develop drug-induced motor fluctuations and dyskinesia. In carriers of GBA mutations, the severity of cognitive impairment corresponds to age-matched patients without mutations...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Ganqiang Liu, Brendon Boot, Joseph J Locascio, Iris E Jansen, Sophie Winder-Rhodes, Shirley Eberly, Alexis Elbaz, Alexis Brice, Bernard Ravina, Jacobus J van Hilten, Florence Cormier-Dequaire, Jean-Christophe Corvol, Roger A Barker, Peter Heutink, Johan Marinus, Caroline H Williams-Gray, Clemens R Scherzer
OBJECTIVE: We hypothesized that mutations in the β-glucocerebrosidase gene (GBA) causing neuropathic Gaucher's disease (GD) in homozygotes will be associated with aggressive cognitive decline in heterozygous Parkinson's disease (PD) patients, while mutations associated with non-neuropathic GD will confer intermediate progression rates. METHODS: 2,304 patients with PD and 20,868 longitudinal visits for up to 12.8 years (median 4.1) from seven cohorts were analyzed...
September 22, 2016: Annals of Neurology
Gian D Pal, Deborah Hall, Bichun Ouyang, Jessica Phelps, Roy Alcalay, Michael W Pauciulo, William C Nichols, Lorraine Clark, Helen Mejia-Santana, Lucia Blasucci, Christopher G Goetz, Cynthia Comella, Amy Colcher, Ziv Gan-Or, Guy A Rouleau, Karen Marder
OBJECTIVE: In a cohort of patients with young-onset Parkinson's disease (PD), the authors assessed (1) the prevalence of genetic mutations in those who enrolled in deep brain stimulation (DBS) programs compared with those who did not enroll DBS programs and (2) specific genetic and clinical predictors of DBS enrollment. METHODS: Subjects were participants from 3 sites (Columbia University, Rush University, and the University of Pennsylvania) in the Consortium on Risk for Early Onset Parkinson's Disease (CORE-PD) who had an age at onset < 51 years...
September 2016: Movement Disorders Clinical Practice
Shinichiro Yoshida, Jun Kido, Shirou Matsumoto, Ken Momosaki, Hiroshi Mitsubuchi, Tomoyuki Shimazu, Keishin Sugawara, Fumio Endo, Kimitoshi Nakamura
In the prenatal diagnosis of Gaucher disease (GD), glucocerebrosidase (GBA) activity is measured with fetal cells, and gene analysis is performed when pathogenic mutations in GBA are identified in advance. Herein is described prenatal diagnosis in a family in which two children had GD. Although prior genetic information for this GD family was not obtained, next-generation sequencing (NGS) was carried out for this family because immediate prenatal diagnosis was necessary. Three mutations were identified in this GD family...
September 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Victoria Mallett, Jay P Ross, Roy N Alcalay, Amirthagowri Ambalavanan, Ellen Sidransky, Patrick A Dion, Guy A Rouleau, Ziv Gan-Or
The lysosomal enzyme glucocerebrosidase (GCase), encoded by GBA, has an important role in Parkinson disease (PD). GBA mutation carriers have an increased risk for PD, earlier age at onset, faster progression, and various nonmotor symptoms including cognitive decline, REM sleep behavior disorder, hyposmia, and autonomic dysfunction.(1) Furthermore, GCase enzymatic activity is reduced in the peripheral blood(2) and brain(3) of noncarrier, sporadic PD patients. Biallelic GBA mutations, which have been classified as "severe" or "mild," may cause Gaucher disease (GD), a lysosomal storage disorder...
October 2016: Neurology. Genetics
L S Ramos, F Lozano, J Muzón
The increase of human population, especially in urban areas, correlates with an alarming destruction of green spaces. Therefore, understanding the mechanisms by which urbanization processes affect biodiversity is crucial in integrating the environment in a proper urban planning. The main urban center of Argentina is known as the Greater Buenos Aires (GBA), and it includes the autonomous city of Buenos Aires and 24 surrounding districts. Avellaneda, one of the districts of the GBA, is an important urban and industrial center with green areas and low level of urbanization on the coastal area of the Río de la Plata...
September 17, 2016: Neotropical Entomology
E P Nuzhnyi, A F Yakimovsky, A A Timofeeva, T S Usenko, M A Nikolaev, A K Emel'yanov, V I Amosov, E V Bubnova, A M Bukina, E Yu Zakharova, S N Pchelina
Mutations in the GBA and SMPD1 genes, which lead to the development of lysosomal storage diseases, are high risk factors for Parkinson's disease and dementia with Lewy bodies. We screened the mutations in the GALC and CLN3 genes in patients with Parkinson's disease and control subjects. A heterozygous CLN3 mutation (del 1.02 kb) carrier with clinical features of the unusual extrapyramidal syndrome was identified. A role of CLN3 mutations in the development of neurodegenerative disorders is discussed.
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Roberto Cilia, Sara Tunesi, Giorgio Marotta, Emanuele Cereda, Chiara Siri, Silvana Tesei, Anna L Zecchinelli, Margherita Canesi, Claudio B Mariani, Nicoletta Meucci, Giorgio Sacilotto, Michela Zini, Michela Barichella, Corrado Magnani, Stefano Duga, Rosanna Asselta, Giulia Soldà, Agostino Seresini, Manuela Seia, Gianni Pezzoli, Stefano Goldwurm
OBJECTIVE: The objective of this work was to investigate survival, dementia, and genotype-phenotype correlations in patients with Parkinson's disease (PD) with and without mutations on the glucocerebrosidase gene (GBA). METHODS: We included 2,764 unrelated consecutive PD patients: 123 GBA carriers (67 mild-p.N370S and 56 severe mainly p.L444P) and 2,641 noncarriers. Brain perfusion and dopamine transporter imaging was analyzed, including dementia with Lewy Bodies (DLB) as an additional control group...
September 15, 2016: Annals of Neurology
Francesca Morgante, Alfonso Fasano, Monia Ginevrino, Simona Petrucci, Lucia Ricciardi, Francesco Bove, Chiara Criscuolo, Marcello Moccia, Anna De Rosa, Chiara Sorbera, Anna Rita Bentivoglio, Paolo Barone, Giuseppe De Michele, Maria Teresa Pellecchia, Enza Maria Valente
OBJECTIVE: The aim of this multicenter, case-control study was to investigate the prevalence and severity of impulsive-compulsive behaviors (ICBs) in a cohort of patients with parkin-associated Parkinson disease (PD) compared to a group of patients without the mutation. METHODS: We compared 22 patients with biallelic parkin mutations (parkin-PD) and 26 patients negative for parkin, PINK1, DJ-1, and GBA mutations (PD-NM), matched for age at onset, disease duration, levodopa, and dopamine agonist equivalent daily dose...
October 4, 2016: Neurology
Marie Y Davis, Catherine O Johnson, James B Leverenz, Daniel Weintraub, John Q Trojanowski, Alice Chen-Plotkin, Vivianna M Van Deerlin, Joseph F Quinn, Kathryn A Chung, Amie L Peterson-Hiller, Liana S Rosenthal, Ted M Dawson, Marilyn S Albert, Jennifer G Goldman, Glenn T Stebbins, Bryan Bernard, Zbigniew K Wszolek, Owen A Ross, Dennis W Dickson, David Eidelberg, Paul J Mattis, Martin Niethammer, Dora Yearout, Shu-Ching Hu, Brenna A Cholerton, Megan Smith, Ignacio F Mata, Thomas J Montine, Karen L Edwards, Cyrus P Zabetian
Importance: Parkinson disease (PD) is heterogeneous in symptom manifestation and rate of progression. Identifying factors that influence disease progression could provide mechanistic insight, improve prognostic accuracy, and elucidate novel therapeutic targets. Objective: To determine whether GBA mutations and the E326K polymorphism modify PD symptom progression. Design, Setting, and Participants: The entire GBA coding region was screened for mutations and E326K in 740 patients with PD enrolled at 7 sites from the PD Cognitive Genetics Consortium...
October 1, 2016: JAMA Neurology
Alvaro Sanchez-Martinez, Michelle Beavan, Matthew E Gegg, Kai-Yin Chau, Alexander J Whitworth, Anthony H V Schapira
GBA gene mutations are the greatest cause of Parkinson disease (PD). GBA encodes the lysosomal enzyme glucocerebrosidase (GCase) but the mechanisms by which loss of GCase contributes to PD remain unclear. Inhibition of autophagy and the generation of endoplasmic reticulum (ER) stress are both implicated. Mutant GCase can unfold in the ER and be degraded via the unfolded protein response, activating ER stress and reducing lysosomal GCase. Small molecule chaperones that cross the blood brain barrier help mutant GCase refold and traffic correctly to lysosomes are putative treatments for PD...
2016: Scientific Reports
Nimer Ortuno-Gutierrez, Rony Zachariah, Desalegn Woldeyohannes, Adama Bangoura, Gba-Foromo Chérif, Francis Loua, Veerle Hermans, Katie Tayler-Smith, Welile Sikhondze, Lansana-Mady Camara
SETTING: Ten targeted health facilities supported by Damien Foundation (a Belgian Non Governmental Organization) and the National Tuberculosis (TB) Program in Conakry, Guinea. OBJECTIVES: To uphold TB program performance during the Ebola outbreak in the presence of a package of pre-emptive additional measures geared at reinforcing the routine TB program, and ensuring Ebola infection control, health-workers safety and motivation. DESIGN: A retrospective comparative cohort study of a TB program assessing the performance before (2013) and during the (2014) Ebola outbreak...
2016: PloS One
Ulrike Theidel, J-Matthias Graf von der Schulenburg
BACKGROUND: The AMNOG regulation, introduced in 2011 in Germany, changed the game for new drugs. Now, the industry is required to submit a dossier to the GBA (the central decision body in the German sickness fund system) to show additional benefit. After granting the magnitude of the additional benefit by the GBA, the manufacturer is entitled to negotiate the reimbursement price with the GKV-SV (National Association of Statutory Health Insurance Funds). The reimbursement price is defined as a discount on the drug price at launch...
December 2016: Health Economics Review
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