Results 71 to 80 of about 3,074 (177)

Prodromal Parkinsonian Features in Carriers of Gaucher Disease Compared to Controls

Life
Carriers of Gaucher disease have an increased risk of developing Parkinson’s disease (PD). Identifying PD in its prodromal stage is crucial, as early detection before motor symptoms appear allows for potential interventions to salvage neurons and slow or
Michal Becker-Cohen, Ari Zimran, Tama Dinur, Maayan Tiomkin, Arndt Rolfs, David Arkadir, Peter Bauer, Elena Shulman, Gilad Yahalom, Mikhal E. Cohen, Orly Manor, Ora Paltiel, Shoshana Revel-Vilk   +12 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

Diffusion MRI and α‐Synuclein Seed Amplification Status in Parkinson's Disease

Annals of Neurology, Volume 100, Issue 2, Page 295-304, August 2026.
Objective Positive α‐synuclein seed amplification assay (SAA) is a biomarker found in most people with Parkinson's disease (PD). We explored if free‐water (FW) imaging detects microstructural differences in the brains of patients with early PD with SAA+ or SAA– status.
Shannon Y. Chiu, Wei‐en Wang, Robin Chen, Jesse C. DeSimone, Derek B. Archer, Charles H. Adler, Shyamal H. Mehta, Sara R. Dresler, Melissa J. Armstrong, Nikolaus McFarland, Michael Okun, David E. Vaillancourt, Parkinson's Progression Markers Initiative, Neha Prakash, Tanya Simuni, Nabila Dahodwala, Caroline Tanner, Lana Chahine, Brit Mollenhauer, Anat Mirelman, Roy Alcalay; Katherine Leaver, Marie Saint‐Hilaire, Ruth Schneider, Christopher Tarolli, Werner Poewe, Aleksandar Videnovic, David Standaert, Marissa Dean, Sonja Jonsdottir, Rejko Krueger, Claire Pauly, Stewart Factor, Penelope Hogarth, Robert Hauser, Amy Amara, Michelle Fullard, Cyrus Zabetian, Hubert Fernandez, Kathrin Brockmann, Isabel Wurster, Yen Tai, Paolo Barone, Marina Picillo, Stuart Isaacson, Alberto Espay, Eduardo Tolosa, Javier Ruiz Martinez, Leonidas Stefanis, Kelvin Chou, Lorraine Kalia, Connie Marras, David Grimes, Tiago Mestre, Rajesh Pahwa, Mark Lew, Holly Shill, Shyamal Mehta, Giulietta Riboldi, Nikolaus McFarland, Ron Postuma, Zoltan Mari, David Ledingham, Nicola Pavese, Michele Hu, Norbert Brueggemann, Christine Klein, Bastiaan Bloem, Cristina Simonet, Alastair Noyce, Anette Janzen, David Pedrosa, Wolfgang Oertel, Njideka Okubadejo, David Shprecher, Arjun Tarakad, Emile Moukheiber, Joy Antala, Carla Aranda, Karen Williams, Sophia Melton, Karina Benson, Ashwini Ramachandran, Danielle Potts, Grace LaMoure, Ritikha Vengadesh, Ryan Manzler, Jaime Heller, Primi Ranola, Farah Kausar, Sherri Mosovsky, Diana Willeke, Elizabeth Kalinkara Gomez, Janelle Rodriguez, Nobuko Kemmotsu, May Eshel, Deborah Raymond, Abigail Desrosiers, Raymond James, Lauren Jackson, Iris Egner, Wesley Schlett, Courtney Blair, Lauren Ruffrage, Berenice Sevilla, Barbara Sommerfeld, Dustin Le, Erica Botting, Gabriella Mazur, Daniele Derlein, Ying Liu, Ciera Cobb, Olivia Masiewicz, Jennifer Mule, Michael Morsillo, Ella Hilt, Lisbeth Pennente, Bobbie Stubbeman, Alicia Garrido, Valeria Ravasi, Ioana Croitoru, Christos Koros, Nikolas Papagiannakis, Frank Ferrari, Mengyu Zheng, Shawna Reddie, Alicia Alejandra, Andrea Gray, Alejandra Valenzuela, Caitlin Goodman, Sara Dresler, Neil Santos, Fahrial Esha, Kyle Rizer, Nadine Zablith, Liliana Dumitrescu, Debra Galley, Victoria Kate Foster, Jamil Razzaque, Madita Grümmer, Yara Krasowski, Elisabeth Sittig, Oluwadamilola Ojo, Kelly Clark, Rory Mahabir, Kori Ribb, Shamera Willoughby   +145 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

Epigenetic Mechanisms Underlying Cognitive Dysfunction in Parkinson's Disease: Current Evidence and Future Prospects

Brain and Behavior, Volume 16, Issue 8, August 2026.
Epigenetic mechanismsincluding DNA methylation, histone modifications, and microRNA (miRNA) regulationmodulate gene expression without altering the DNA sequence and are increasingly implicated in the cognitive impairment associated with Parkinson's disease (PD). Environmental and molecular factors influence these epigenetic pathways, leading to altered
Fatemeh Hasani, Mohammad Ebrahim Kherad, Mohammad Sharifi Sarasyabi, Kimia Jazi, Ali Ashkbari, Payam Ahmadi, Hadise Heidarpour, Mahdi Masrour, Sina Khamaki, Rahem Rahmati, Andrei Surguchov   +10 more
wiley   +1 more source

Diagnostic Challenge of Pediatric Gaucher Disease in a Low‐Resource South Asian Setting: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Gaucher disease is a rare autosomal recessive lysosomal storage disorder that is caused by a deficiency of the enzyme “β‐glucocerebrosidase”, leading to the accumulation of glucocerebroside within macrophages. It commonly presents with hepatosplenomegaly, cytopenias, and bone marrow infiltration.
Muhammad Waqas, Rahila Bano, Muhammad Usman Haider, Kumar Abhishek, Arshad Mehmood, Aqeel Abbas, Abbas Ali, Talha Basheer, Rafiya Muhammad Altaf, Yahya Samadi   +9 more
wiley   +1 more source

Addressing the Challenges of Translating LRRK2 Biology into Disease‐Modifying Therapies: The LRRK2 Investigative Therapeutics Exchange Initiative

Movement Disorders, EarlyView.
Esther Sammler, Francesca Tonelli, Michelle Durborow, Jim McNasby, Todd Sherer, Mahmood Ahmed, Stevan W. Djuric, Kalpana Merchant, Alastair Reith, Darryle Schoepp, Christine Klein, Shalini Padmanabhan, Dario R. Alessi   +12 more
wiley   +1 more source

A Systematic Review on Disease‐Modifying Therapies in Parkinsonian Disorders

Clinical Pharmacology &Therapeutics, Volume 120, Issue 2, Page 357-374, August 2026.
Parkinsonian disorders, including Parkinson's disease, Lewy body dementia, multiple system atrophy, and progressive supranuclear palsy, are progressive neurodegenerative conditions with no treatment options to slow disease progression. This systematic review provides an overview of evidence of disease‐modifying therapies that have been evaluated in ...
Pepijn P.N.M. Eijsvogel, Lars M.G. Smits, Philip H.C. Kremer, Geert Jan Groeneveld   +3 more
wiley   +1 more source

Complementary Mitochondrial and α‐Synuclein Signatures Refine Biological Stratification of Parkinson's Disease

Movement Disorders, EarlyView.
Julia C. Fitzgerald, Patrick May, Anne Grünewald   +2 more
wiley   +1 more source

The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease

Neural Regeneration Research, 2017
Gaucher disease (GD), the commonest lysosomal storage disorder, results from the lack or functional deficiency of glucocerebrosidase (GCase) secondary to mutations in the GBA1 gene. There is an established association between GBA1 mutations and Parkinson'
Kerri J Kinghorn, Amir M Asghari, Jorge Iván Castillo-Quan   +2 more
doaj   +1 more source