Results 71 to 80 of about 3,043 (176)

Electroencephalography‐Based Clustering Reveals Robust Neurophysiological Subtypes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) is clinically heterogeneous, with substantial variability in motor and cognitive features. Conventional clinical scales provide limited insight into underlying neural mechanisms and show poor longitudinal stability.
Daniel Vered, Zoya Katzir, Idan Daniel Grosbard, Avner Thaler, Inbal Maidan   +4 more
wiley   +1 more source

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

The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta‐Analysis

Movement Disorders, EarlyView.
Abstract Background Variants in GBA1 are important genetic risk factors for synucleinopathies, including Parkinson's disease (PD). Although several GBA1 variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.
Leah V. Chifamba, Sitki Cem Parlar, Emma N. Somerville, Lang Liu, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Jennifer A. Ruskey, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Irina Miliukhina, Lior Greenbaum, Sharon Hassin‐Baer, Orly Goldstein, Mandy Radefeldt, Peter Bauer, Christian Beetz, Allison A. Dilliott, James C. Beck, Konstantin Senkevich, ROPAD Study Group, The Parkinson's Foundation PD GENEration Study, Christine Klein, Roy N. Alcalay, Ziv Gan‐Or   +30 more
wiley   +1 more source

Exploring the relationship between GBA1 host genotype and gut microbiome in the GBA1L444P/WT mouse model: implications for Parkinson’s disease pathogenesis

Frontiers in Neuroscience
BackgroundHeterozygous variants in GBA1 are the commonest genetic risk factor for Parkinson’s disease (PD), but penetrance is incomplete. GBA1 dysfunction can cause gastrointestinal disturbances and microbiome changes in preclinical models.
Elisa Menozzi, Elisa Menozzi, Mallia Geiger, Mallia Geiger, Victoria Meslier, Victoria Meslier, Federico Fierli, Federico Fierli, Marine Gilles, Kai-Yin Chau, Kai-Yin Chau, Aymeric David, Aymeric David, Revi Shahar Golan, Revi Shahar Golan, Alexandre Famechon, Alexandre Famechon, Sofia Koletsi, Sofia Koletsi, Christian Morabito, Christian Morabito, Benoit Quinquis, Benoit Quinquis, Nicolas Pons, Nicolas Pons, Stanislav Dusko Ehrlich, Stanislav Dusko Ehrlich, Jane Macnaughtan, Jane Macnaughtan, Mathieu Almeida, Mathieu Almeida, Anthony HV Schapira, Anthony HV Schapira   +32 more
doaj   +1 more source

Lack of Cerebrospinal Fluid α‐Synuclein Seeding in VPS35 D620N‐ and LRRK2 Y1699C‐Linked Parkinson's Disease

Movement Disorders, EarlyView.
Letizia Santinelli, Neringa Pratuseviciute, Lara M. Lange, Teresa Kleinz, Norbert Brüggemann, Linn Streubel‐Gallasch, Meret Möller, Alexander Zimprich, Christof Brücke, Jean‐Marc Good, Norman Griebner, Shalini Padmanabhan, Philip Seibler, Peter Bauer, Wim Vandenberghe, Esther Sammler, Cornelis Blauwendraat, Christine Klein, Max Borsche   +18 more
wiley   +1 more source

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +1 more source

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

Neuroprotective effects of ursodeoxycholic acid in Parkinson's disease and Alzheimer's disease

Neuroprotection, EarlyView.
In Parkinson's disease (PD) and Alzheimer's disease (AD), various shared pathological mechanisms exist. UDCA has been shown to exert neuroprotective effects in preclinical and clinical studies. Such effects include the mitigation of neuroinflammation as well as rescue effects on mitochondrial dysfunction, oxidative stress, impaired autophagy, and ...
Ashley En Yi Chong, Andrew Octavian Sasmita, Rhun Yian Koh, Anna Pick Kiong Ling   +3 more
wiley   +1 more source

Neuroprotective roles of klotho: Molecular pathways and therapeutic implications for cognitive health in neurological and psychiatric diseases

Experimental Physiology, EarlyView.
Abstract Klotho, a pleiotropic protein initially identified for its role in kidney function, has garnered significant attention for its neuroprotective properties in various neurodegenerative diseases. It regulates key processes, such as oxidative stress, neuroinflammation, synaptic plasticity and myelination, all crucial for maintaining neuronal ...
Amir Arsalan Ghahari, Leylinaz Safaeihavadaragh, Mehrdad Nourizadeh, Shaghayegh Davari, Saba Safaei, Farshad Zare, Safa Alkayyat, Erfan Kamali Far   +7 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