Results 71 to 80 of about 12,300 (184)

Interpreting Gene Expression Effects of Disease-Associated Variants: A Lesson from SNCA rs356168

Frontiers in Genetics, 2017
The SNCA intronic single nucleotide polymorphism (SNP), rs356168, has been associated with Parkinson’s disease (PD) in large genome wide association studies (GWAS). Recently, the PD-risk allele, rs356168-G was shown to increase SNCA-mRNA expression using
Omolara-Chinue Glenn, Omolara-Chinue Glenn, Lidia Tagliafierro, Lidia Tagliafierro, Thomas G. Beach, Randy L. Woltjer, Ornit Chiba-Falek, Ornit Chiba-Falek   +7 more
doaj   +1 more source

Discordance of Dopaminergic Dysfunction and Subcortical Atrophy by α‐Synuclein Status in Sporadic and Genetic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) is characterized by predominantly neuronal α‐synuclein pathology and dopaminergic dysfunction. Cerebrospinal fluid (CSF) seeding amplification assays (SAA) detect α‐synuclein aggregates in vivo, but not all patients with PD have a positive SAA.
Michael Tran Duong, Sandhitsu R. Das, Pulkit Khandelwal, Joaquin A. Vizcarra, Yue Li, Long Xie, Paul A. Yushkevich, Leslie M. Shaw, Jacob G. Dubroff, Parkinson's Progression Markers Initiative, Kenneth Marek, Shirley Lasch, Caroline Tanner, Tanya Simuni, Christopher Coffey, Karl Kieburtz, Renee Wilson, Brit Mollenhauer, Site Investigator, Douglas Galasko, Site Investigator, Tatiana Foroud, Lana Chahine, Andrew Siderowf, John Seibyl, Arthur Toga, Andrew Singleton, Daniel Weintraub, John Trojanowski, Leslie Shaw, Duygu Tosun‐Turgut, Kathleen Poston, Susan Bressman, Kalpana M. Merchant, Werner Poewe, Todd Sherer, Sohini Chowdhury, Mark Frasier, Catherine Kopil, Anna Naito, Vanessa Arnedo, Ray Dorsey, Cynthia Casaceli, Imaging Core, Nichole Daegele, Justin Albani1 Statistics Core, Chelsea Caspell‐Garcia, Liz Uribe, Eric Foster, Jeff Long, Nick Seedorff, Karen Crawford, Danielle Elise Smith, Paola Casalin, Giulia Malferrari, Cheryl Halter, David Russell, Stewart Factor, Penelope Hogarth, David Standaert, Amy Amara, Robert Hauser, Joseph Jankovic, Matthew Stern, Shu‐Ching Hu, Gretchen Todd, Rachel Saunders‐Pullman, Irene Richard, Marie H Saint‐Hilaire, Klaus Seppi, Holly Shill, Hubert Fernandez, Claudia Trenkwalder, Wolfgang Oertel, Daniela Berg, Kathrin Brockman, Isabel Wurster, Liana Rosenthal, Yen Tai, Nicola Pavese, Paolo Barone, Stuart Isaacson, Alberto Espay, Dominic Rowe, Melanie Brandabur, James Tetrud, Grace Liang, Alex Iranzo, Eduardo Tolosa, Karen Marder, Maria de Arriba Sanchez, Leonidis Stefanis, Maria Jose Marti, Javier Ruiz Martinez, Jean‐Christophe Corvol, Jan O Assly, Salima Brillman, Nir Giladi, Debra Smejdir, Julia Pelaggi, Farah Kausar, Linda Rees, Barbara Sommerfield, Madeline Cresswell, Courtney Blair, Karen Williams, Grace Zimmerman, Stephanie Guthrie, Ashlee Rawlins, Leigh Donharl, Christine Hunter, Baochan Tran, Abigail Darin, Carly Linder, Marne Baca, Heli Venkov, Cathi‐Ann Thomas, Raymond James, Beatrice Heim, Paul Deritis, Fabienne Sprenger, Deborah Raymond, Diana Willeke, Zoran Obradov, Jennifer Mule, Nancy Monahan, Katharina Gauss, Deborah Fontaine, Daniel Szpak, Arita McCoy, Becky Dunlop, Laura Marie Payne, Susan Ainscough, Lisbeth Carvajal, Rebecca Silverstein, Kristy Espay, Madelaine Ranola, Elisabet Mondragon Rezola, Helen Mejia Santana, Maria Stamelou, Alicia Garrido, Stephanie Carvalho, Anne Grete Kristiansen, Krista Specketer, Anat Mirlman, Maurizio Facheris, Holly Soares, Mark A. Mintun, Jesse Cedarbaum, Peggy Taylor, Danna Jennings, Lawrence Slieker, Brian McBride, Colin Watson, Etienne Montagut, Zulfiqar Haider Sheikh, Baris Bingol, Remi Forrat, Pablo Sardi, Tanya Fischer, Alastair D. Reith, Jan Egebjerg, Lone Frydelund Larsen, Nathalie Breysse, Didier Meulien, Barbara Saba, Vera Kiyasova, Chris Min, Thomas McAvoy, Robert Umek, Philip Iredale, Jeremy Edgerton, Susan De Santi, Christian Czech, Frank Boess, Jeffrey Sevigny, Thomas Kremer, Igor Grachev, Kaplana Merchant, Andreja Avbersek, Pierandrea Muglia, Alexandra Stewart, Rene Prashad, Johannes Taucher, Andrew Siderowf, David A. Wolk, Ilya M. Nasrallah   +186 more
wiley   +1 more source

Novel Therapeutic Horizons: SNCA Targeting in Parkinson’s Disease

Biomolecules
Alpha-synuclein (αSyn) aggregates are the primary component of Lewy bodies, which are pathological hallmarks of Parkinson’s disease (PD). The toxicity of αSyn seems to increase with its elevated expression during injury, suggesting that therapeutic approaches focused on reducing αSyn burden in neurons could be beneficial.
Alessio Maria Caramiello, Valentina Pirota   +1 more
openaire   +4 more sources

Perampanel Blocks Transsynaptic α‐Synuclein Propagation and Neurodegeneration in a Mouse Model of Lewy Body Disease

Movement Disorders, EarlyView.
Abstract Background Transsynaptic α‐synuclein propagation plays a crucial role in the progression of Lewy body disease. We previously demonstrated that an α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid receptor antagonist, perampanel, blocks neuronal uptake of α‐synuclein preformed fibrils (PFFs) in an activity‐dependent manner.
Jun Ueda, Norihito Uemura, Jiarui Chang, Tetsuya Hirato, Tomoyuki Ishimoto, Miki Oono, Shuichi Matsuzawa, Riki Matsumoto, Hodaka Yamakado, Ryosuke Takahashi   +9 more
wiley   +1 more source

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

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Impact of Alcohol Intake on Parkinson's Disease Risk and Progression: A Systematic Review and Dose–Response Meta‐Analysis of Prospective Studies

Movement Disorders, EarlyView.
Abstract The association between alcohol consumption and Parkinson's disease (PD) risk remains unclear, whereas smoking has an inverse relationship with the disease. This study systematically reviewed and meta‐analyzed 16 studies (2014–2024) from PubMed, Scopus, Web of Science, MEDLINE, and the Cochrane Library to assess the relationship between ...
Sahar Hemeda, Mohammed Elmadani, Mohammed Merzah, Aseel Odeh, Evelyn Pintér, István Balás, József Janszky, Dávid Pintér, Norbert Kovács   +8 more
wiley   +1 more source

Increased Serum Neurofilament Light Chain Levels in Parkinson's Disease Patients Carrying the p.A53T SNCA Mutation: Data from the Parkinson's Progression Markers Initiative Study

Movement Disorders, EarlyView.
Abstract Background Serum neurofilament light chain (NfL) levels, a marker of axonal damage, are generally elevated in neurodegenerative conditions, but results in idiopathic Parkinson's disease (iPD) have been inconsistent. The p.A53T SNCA mutation usually leads to a severe form of PD.
Nikolaos Papagiannakis, Christos Koros, Athina‐Maria Simitsi, Leonidas Stefanis, and The Parkinson's Progression Markers Initiative, Kenneth Marek, Tanya Simuni, Andrew Siderowf, Caroline Tanner, Thomas F Tropea, Tatiana Foroud, Lana Chahine, Brit Mollenhauer, Kalpana Merchant, Douglas Galasko, Christopher Coffey, Kathleen Poston, Roseanne Dobkin, Ethan Brown, Roy Alcalay, Dan Weintraub, Emily Flagg, Kimberly Fabrizio, Susan Bressman, Cornelis Blauwendraat, Paola Casalin, Sonya Dumanis, Raymond James, Karl Kieburtz, Sneha Mantri, Werner Poewe, Michael Schwarzschild, John Seibyl, David Standaert, Duygu Tosun‐Turgut, Sohini Chowdhury, Jamie Eberling, Mark Frasier, Leslie Kirsch, Katie Kopil, Maggie Kuhl, Alyssa O'Grady, Todd Sherer, Tawny Willson, Tanya Simuni, Bridget McMahon, Craig Stanley, Kim Fabrizio, Dixie Ecklund, Christine Kohnen, Tatiana Foroud, Laura Heathers, Christopher Hobbick, John Seibyl, Christopher Coffey, Chelsea Caspell‐Garcia, Michael Brumm, Arthur Toga, Karen Crawford, Tatiana Foroud, Jan Hamer, Brit Mollenhauer, Doug Galasko, Kalpana Merchant, Andrew Singleton, Tatiana Foroud, Dirk Keene, Caroline Tanner, Ethan Brown, Carlie Tanner, Ethan Brown, Lana Chahine, Roseann Dobkin, Monica Korell, Neha Prakash, Tanya Simuni, Nabila Dahodwala, Caroline Tanner, Lana Chahine, Brit Mollenhauer, Sebastian Schade, Douglas Galasko, 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, Evan Doll, Ying Liu, Ciera Cobb, Olivia Masiewicz, Jennifer Mule, Michael Morsillo, Ella Hilt, Aldazier Jakiran, Dominga Valentino, 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, Natalie Donkor, Elisabeth Sittig, Oluwadamilola Ojo, Kelly Clark, Rory Mahabir, Kori Ribb, Shamera Willoughby   +213 more
wiley   +1 more source

Novel murine closed‐loop auditory stimulation paradigm elicits macrostructural sleep benefits in neurodegeneration

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Boosting slow‐wave activity (SWA) by modulating slow waves through closed‐loop auditory stimulation (CLAS) might provide a powerful non‐pharmacological tool to investigate the link between sleep and neurodegeneration. Here, we established mouse CLAS (mCLAS)‐mediated SWA enhancement and explored its effects on sleep deficits in neurodegeneration,
Inês Dias, Sedef Kollarik, Michelle Siegel, Christian R. Baumann, Carlos G. Moreira, Daniela Noain   +5 more
wiley   +1 more source

Enriched Environmental Conditions Modify the Gut Microbiome Composition and Fecal Markers of Inflammation in Parkinson’s Disease

Frontiers in Neuroscience, 2019
Recent findings suggest an implication of the gut microbiome in Parkinson’s disease (PD) patients. PD onset and progression has also been linked with various environmental factors such as physical activity, exposure to pesticides, head injury, nicotine ...
Yogesh Singh, Mohamed El-Hadidi, Mohamed El-Hadidi, Jakob Admard, Zinah Wassouf, Julia M. Schulze-Hentrich, Ursula Kohlhofer, Leticia Quintanilla-Martinez, Daniel Huson, Olaf Riess, Nicolas Casadei   +10 more
doaj   +1 more source