Results 41 to 50 of about 2,830 (159)

Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Deep brain stimulation (DBS) is effective for Parkinson's disease (PD); however, its efficacy varies with genetic background, such as the GBA1 variant—the causative gene of Gaucher disease—associated with increased PD risk and cognitive decline after subthalamic nucleus (STN)‐DBS.
Hikaru Kamo, Genko Oyama, Mai Shimizu, Haruka Takeshige‐Amano, Takashi Ogawa, Wataru Sako, Noriko Nishikawa, Taku Hatano, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Masanobu Ito, Hirokazu Iwamuro, Atsushi Umemura, Nobutaka Hattori   +14 more
wiley   +1 more source

Genetic and Pathological Testing Attitudes for Parkinson's Disease in At‐Risk Relatives

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is increasingly recognized as a neurodegenerative disorder with a broad clinical spectrum and diverse biomarkers enabling early detection. α‐synuclein seed amplification assays (SAA) and genetic testing now allow identification of PD pathology in asymptomatic individuals.
Tal Weil, Anat Mirelman, Roy N. Alcalay, Nurit Omer, Penina Ponger, Avner Thaler   +5 more
wiley   +1 more source

Penetrance of Parkinson’s disease in GBA1 carriers depends on variant severity and polygenic background

npj Parkinson's Disease
Heterozygous GBA1 variants increase Parkinson’s disease (PD) risk with variable penetrance. We investigated the interaction between genome-wide polygenic risk scores (PRS) and severity of pathogenic GBA1 variants (GBA1 PVs) to assess their combined ...
Emadeldin Hassanin, Zied Landoulsi, Sinthuja Pachchek, NCER-PD Consortium, Peter Krawitz, Carlo Maj, Rejko Krüger, Patrick May, Dheeraj Reddy Bobbili   +8 more
doaj   +1 more source

Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism

Nature Communications, 2023
GBA1 mutations cause Gaucher’s disease and are the strongest risk factor for Parkinson’s disease. Using stable cell lines and patient iPSCs, the authors show mitochondrial localization of GBA1, which may affect neurodegenerative disease risk.
Pascale Baden, Maria Jose Perez, Hariam Raji, Federico Bertoli, Stefanie Kalb, María Illescas, Fokion Spanos, Claudio Giuliano, Alessandra Maria Calogero, Marvin Oldrati, Hannah Hebestreit, Graziella Cappelletti, Kathrin Brockmann, Thomas Gasser, Anthony H. V. Schapira, Cristina Ugalde, Michela Deleidi   +16 more
doaj   +1 more source

Parkinson's‐Linked LRRK2 and GBA1 Mutations Modulate the Peripheral Immune Response to Pseudomonas aeruginosa

Movement Disorders, EarlyView.
Abstract Background Peripheral disease mechanisms such as immune dysregulation may contribute to Parkinson's disease (PD). To investigate interactions between common PD mutations and immune responses to environmental pathogens, we studied responses to Pseudomonas aeruginosa (P.
Julian R. Mark, Hannah A. Staley, Ann M. Titus, Julian Agin‐Liebes, Alicia Garrido, Laura Hughes, Nicolas Dzamko, Rebecca L. Wallings, Malú Gámez Tansey   +8 more
wiley   +1 more source

GBA1-Associated Parkinson’s Disease Is a Distinct Entity

International Journal of Molecular Sciences
GBA1-associated Parkinson’s disease (GBA1-PD) is increasingly recognized as a distinct entity within the spectrum of parkinsonian disorders. This review explores the unique pathophysiological features, clinical progression, and genetic underpinnings that differentiate GBA1-PD from idiopathic Parkinson’s disease (iPD).
Aliaksandr Skrahin, Mia Horowitz, Majdolen Istaiti, Volha Skrahina, Jan Lukas, Gilad Yahalom, Mikhal E. Cohen, Shoshana Revel-Vilk, Ozlem Goker-Alpan, Michal Becker-Cohen, Sharon Hassin-Baer, Per Svenningsson, Arndt Rolfs, Ari Zimran   +13 more
openaire   +2 more sources

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility

Movement Disorders, EarlyView.
Abstract Background GBA1 variants cause Gaucher's disease (GD) in biallelic forms and increase Parkinson's disease (PD) risk in heterozygous carriers. Carriers of mild or severe variants (causing GD type 1 or types 2–3) can enroll in clinical trials, whereas those with GBA1 variants classified as unknown are typically excluded.
Sitki Cem Parlar, Yoomin Lee, Ziv Gan‐Or   +2 more
wiley   +1 more source

Focused Ultrasound for the Treatment of Circuit and Molecular Pathology in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Focused ultrasound is rapidly emerging as a novel technology for the development of symptomatic therapies and supporting disease‐modifying treatments for Parkinson's disease (PD). At the forefront of this development is thermoablation using high‐intensity focused ultrasound, an incisionless treatment that has been extensively tested in ...
Rikke Hahn Kofoed, Victor Schwartz Hvingelby, Jose A. Pineda‐Pardo, Javier Blesa, Steffen Paschen, Anurag Tandon, Juho Joutsa, Andreas Nørgaard Glud   +7 more
wiley   +1 more source

Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients

Movement Disorders, EarlyView.
Abstract Background Parkinsonism may be observed in multiple neurodegenerative diseases, including GRN‐associated frontotemporal dementia (FTD‐GRN), complicating the differential diagnosis of Parkinson's disease (PD). Objectives To investigate the presence of GRN variants in a large group of PD patients.
Christian A. Ganoza, Ana Westenberger, Jefri J. Paul, Filipa Curado, Jörg Rennecke, Sumanth Mannepalli, Emir Zonic, Deepa Saravanakumar, Omid Paknia, Ruslan Al‐Ali, Björn‐Hergen Laabs, Ilona Csoti, Franco Valzania, Wim Vandenberghe, Katrin Reetz, Mitra Afshari, Sharon Hassin‐Baer, Erich Talamoni Fonoff, Doreen Gruber, Anna de Rosa, Thomas Musacchio, Patricia de Carvalho Aguiar, Anna Negrotti, Vitor Tumas, Juan Carlos Gomez‐Esteban, Tanya Gurevich, Nicola Pavese, Jaime Kulisevsky, Esther Sammler, Christine Klein, Peter Bauer, Christian Beetz   +31 more
wiley   +1 more source

Male sex accelerates cognitive decline in GBA1 Parkinson’s disease

npj Parkinson's Disease
Abstract We evaluated 128 GBA and 432 nonGBA Parkinson’s disease (PD) subjects. Baseline clinical features and dopaminergic activity were assessed, together with 7-year clinical follow-up. Survival analyses assessed the independent and interactive effects of male sex and GBA1 mutations on cognitive impairment.
Silvia Paola Caminiti, Micol Avenali, Alice Galli, Rachele Malito, Giada Cuconato, Caterina Galandra, Rosaria Calabrese, Andrea Pilotto, Alessandro Padovani, Fabio Blandini, Daniela Perani, Cristina Tassorelli, Enza Maria Valente   +12 more
openaire   +4 more sources