Results 61 to 70 of about 2,830 (159)

Clinical and Imaging Characteristics of Parkinson's Disease with Negative Alpha‐Synuclein Seed Amplification Assay

Movement Disorders, EarlyView.
Abstract Background The cerebrospinal fluid alpha‐synuclein seed amplification assay (CSFasynSAA) detects alpha‐synuclein aggregation in over 90% of individuals with sporadic PD (sPD). However, the clinical characteristics of sPD with negative CSFasynSAA remain undefined.
Sarah M. Brooker, Jacopo Pasquini, Seung Ho Choi, David‐Erick Lafontant, Seyed‐Mohammad Fereshtehnejad, Yashar Zeighami, Piergiorgio Grillo, Giulietta M. Riboldi, Houman Azizi, Roqaie Moqadam, Un Jung Kang, Kelly N.H. Nudelman, Andrew Siderowf, Caroline M. Tanner, Thomas F. Tropea, Tatiana Foroud, Lana M. Chahine, Brit Mollenhauer, Kalpana M. Merchant, Douglas Galasko, Christopher S. Coffey, Roseanne D. Dobkin, Ethan G. Brown, Roy N. Alcalay, Daniel Weintraub, Kenneth Marek, Tanya Simuni, Paulina Gonzalez‐Latapi, Nicola Pavese, Kathleen L. Poston, the Parkinson's Progression Markers Initiative   +30 more
wiley   +1 more source

Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers

Movement Disorders, EarlyView.
Abstract Background GBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease.
Julian Agin‐Liebes, Alexander Haimovich, Rachel Griep, Nathan Galen Hatcher, Lihang Yao, Cheryl Waters, Shalini Padmanabhan, Roy N. Alcalay   +7 more
wiley   +1 more source

Secretome Analyses Identify FKBP4 as a GBA1-Associated Protein in CSF and iPS Cells from Parkinson’s Disease Patients with GBA1 Mutations

International Journal of Molecular Sciences
Mutations in the GBA1 gene increase the risk of developing Parkinson’s disease (PD). However, most carriers of GBA1 mutations do not develop PD throughout their lives. The mechanisms of how GBA1 mutations contribute to PD pathogenesis remain unclear. Cerebrospinal fluid (CSF) is used for detecting pathological conditions of diseases, providing insights
Rika Kojima, Wojciech Paslawski, Guochang Lyu, Ernest Arenas, Xiaoqun Zhang, Per Svenningsson   +5 more
openaire   +3 more sources

Elevation of Stearoyl‐Coenzyme A Desaturase and Monounsaturated Fatty Acids in Parkinson's Disease Serum

Movement Disorders, EarlyView.
Abstract Background Emerging evidence indicates that dysregulation of monounsaturated fatty acids (MUFAs), synthesized by the enzyme stearoyl‐coenzyme A desaturase (SCD), impacts on α‐synuclein pathology in the Parkinson's disease (PD) brain. Objective The objective of this study was to analyze SCD and MUFA‐enriched lipids in the periphery of patients ...
Finula I. Isik, Russell Pickford, Michelle Chua, Simon J.G. Lewis, Nicolas Dzamko, Woojin Scott Kim   +5 more
wiley   +1 more source

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non‐inferiority sequential trial emulation

Journal of Internal Medicine, EarlyView.
Abstract Objective To compare the efficacy and safety of extended interval (Q3–4W) enzyme replacement therapy (ERT) versus standard biweekly (Q2W) ERT in clinically stable type 1 Gaucher disease (GD) patients. Methods We emulated a target trial with a sequential trial design, using data from the French Gaucher Disease Registry.
Maxime Beydon, Jérôme Stirnemann, Karima Yousfi, Samira Zebiche, Dalil Hamroun, Anaïs Brassier, Samia Pichard, Laure Swiader, Thierry Billette de Villemeur, Bénédicte Héron, Florence Dalbies, Bérengère Cador, Anne‐Sophie Guemann, Francis Gaches, Bénédicte Hivert, Vanessa Leguy‐Seguin, Agathe Masseau, Yves‐Marie Pers, Magali Pettazzoni, Soumeya Bekri, Catherine Caillaud, Edouard Le Guillou, Marie Szymanowski, Leonardo Astudillo, Wladimir Mauhin, Yann Nadjar, Christine Serratrice, Marc G. Berger, Fabrice Camou, Nadia Belmatoug, Yann Nguyen, the French Evaluation of Gaucher Disease Treatment Committee   +31 more
wiley   +1 more source

Sidransky Syndrome—GBA1-Related Parkinson’s Disease and Its Targeted Therapies

International Journal of Molecular Sciences
Sidransky syndrome represents a distinct variant of Parkinson’s disease (PD) that is linked to pathogenic variants in the glucocerebrosidase (GBA1) gene. This disorder exhibits an earlier onset, a more severe course, and a higher dementia prevalence compared to idiopathic PD.
Majdolen Istaiti, Gilad Yahalom, Mikhal Cohen, Volha Skrahina, Aliaksandr Skrahin, Jan Lukas, Arndt Rolfs, Ari Zimran   +7 more
openaire   +2 more sources

Associations of cholinergic system integrity with cognitive decline in GBA1 and LRRK2 mutation carriers

npj Parkinson's Disease
In Parkinson’s disease (PD), GBA1- and LRRK2-mutations are associated with different clinical phenotypes which might be related to differential involvement of the cholinergic system.
Julia Schumacher, Nicola Ray, Stefan Teipel, Alexander Storch   +3 more
doaj   +1 more source

Genetics and Genomics in Sickle Cell Disease in Africa

American Journal of Hematology, Volume 101, Issue S1, Page 47-55, April 2026.
ABSTRACT Advanced genomic technologies are revolutionizing our ability to understand complex diseases. Large‐scale population studies are needed to realize the potential of using individual genetic information to personalize treatments for better patient outcomes for chronic non‐communicable diseases, such as sickle cell disease (SCD).
Siana Nkya, Julie Makani, Jonathan M. Flanagan   +2 more
wiley   +1 more source

The most common structural variant expected at the GBA1 locus may be detected by a simple amplification method: Implications for screening Parkinson’s disease variants

Clinical Parkinsonism & Related Disorders
Introduction: Recombinant alleles are responsible for a large part of Gaucher disease (GD) causing alterations. This is because GBA1, the gene involved in GD, has a 96 % homologous pseudogene, GBAP1, at a 1.6kb distance.
Roberto Rozenberg, Fabiano Tofoli de Araujo, Hsin Fen Chien, Egberto Reis Barbosa, Lygia V. Pereira   +4 more
doaj   +1 more source

Dermal Phospho-Alpha-Synuclein Deposition in Patients With Parkinson's Disease and Mutation of the Glucocerebrosidase Gene

Frontiers in Neurology, 2018
Heterozygous mutations in the glucocerebrosidase gene (GBA1) represent the most common genetic risk factor for Parkinson's disease (PD) and are histopathologically associated with a widespread load of alpha-synuclein in the brain.
Kathrin Doppler, Kathrin Brockmann, Annahita Sedghi, Isabel Wurster, Jens Volkmann, Wolfgang H. Oertel, Claudia Sommer   +6 more
doaj   +1 more source