ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans

Autor: Olivia J Conway, Minerva M Carrasquillo, Xue Wang, Jenny M Bredenberg, Joseph S Reddy, Samantha L Strickland, Curtis S Younkin, Jeremy D Burgess, Mariet Allen, Sarah J Lincoln, Thuy Nguyen, Kimberly G Malphrus, Alexandra I Soto, Ronald L Walton, Bradley F Boeve, Ronald C Petersen, John A Lucas, Tanis J Ferman, William P Cheshire, Jay A van Gerpen, Ryan J Uitti, Zbigniew K Wszolek, Owen A Ross, Dennis W Dickson, Neill R Graff-Radford, Nilüfer Ertekin-Taner

Publikováno v: Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-12 (2018)

Abstract Background Rare coding variants ABI3_rs616338-T and PLCG2_rs72824905-G were identified as risk or protective factors, respectively, for Alzheimer’s disease (AD). Methods We tested the association of these variants with five neurodegenerati

Externí odkaz: https://doaj.org/article/26aae77c26cb4a6c9e381ff00070adea

NOTCH3 variants and risk of ischemic stroke.

Autor: Owen A Ross, Alexandra I Soto-Ortolaza, Michael G Heckman, Christophe Verbeeck, Daniel J Serie, Sruti Rayaprolu, Stephen S Rich, Michael A Nalls, Andrew Singleton, Rita Guerreiro, Emma Kinsella, Zbigniew K Wszolek, Thomas G Brott, Robert D Brown, Bradford B Worrall, James F Meschia

Publikováno v: PLoS ONE, Vol 8, Iss 9, p e75035 (2013)

BACKGROUND:Mutations within the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CADASIL mutations appear to be restricted to the first twenty-four exons, resulting in the gain or

Externí odkaz: https://doaj.org/article/f629f04c31634e809c25c0a35391f7e7

Diffuse argyrophilic grain disease with TDP-43 proteinopathy and neuronal intermediate filament inclusion disease: FTLD with mixed tau, TDP-43 and FUS pathologies

Autor: Shunsuke Koga, Aya Murakami, Alexandra I. Soto-Beasley, Ronald L. Walton, Matthew C. Baker, Monica Castanedes-Casey, Keith A. Josephs, Owen A. Ross, Dennis W. Dickson

Publikováno v: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-9 (2023)

Abstract Frontotemporal lobar degeneration (FTLD) is a group of disorders characterized by degeneration of the frontal and temporal lobes, leading to progressive decline in language, behavior, and motor function. FTLD can be further subdivided into t

Externí odkaz: https://doaj.org/article/ac89a41380b2423b8c85b9f8a0592b72

Mitochondrial genomic variation in dementia with Lewy bodies: association with disease risk and neuropathological measures

Autor: Rebecca R. Valentino, Chloe Ramnarine, Michael G. Heckman, Patrick W. Johnson, Alexandra I. Soto-Beasley, Ronald L. Walton, Shunsuke Koga, Koji Kasanuki, Melissa E. Murray, Ryan J. Uitti, Julie A. Fields, Hugo Botha, Vijay K. Ramanan, Kejal Kantarci, Val J. Lowe, Clifford R. Jack, Nilufer Ertekin-Taner, Rodolfo Savica, Jonathan Graff-Radford, Ronald C. Petersen, Joseph E. Parisi, R. Ross Reichard, Neill R. Graff-Radford, Tanis J. Ferman, Bradley F. Boeve, Zbigniew K. Wszolek, Dennis W. Dickson, Owen A. Ross

Publikováno v: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-15 (2022)

Abstract Dementia with Lewy bodies (DLB) is clinically diagnosed when patients develop dementia less than a year after parkinsonism onset. Age is the primary risk factor for DLB and mitochondrial health influences ageing through effective oxidative p

Externí odkaz: https://doaj.org/article/3ccebbf408344276a4d599bfa2266e82

Creating the Pick’s disease International Consortium: Association study of MAPT H2 haplotype with risk of Pick’s disease

Autor: Rebecca R Valentino, William J Scotton, Shanu F Roemer, Tammaryn Lashley, Michael G Heckman, Maryam Shoai, Alejandro Martinez-Carrasco, Nicole Tamvaka, Ronald L Walton, Matthew C Baker, Hannah L Macpherson, Raquel Real, Alexandra I Soto-Beasley, Kin Mok, Tamas Revesz, Thomas T Warner, Zane Jaunmuktane, Bradley F Boeve, Elizabeth A Christopher, Michael DeTure, Ranjan Duara, Neill R Graff-Radford, Keith A Josephs, David S Knopman, Shunsuke Koga, Melissa E Murray, Kelly E Lyons, Rajesh Pahwa, Joseph E Parisi, Ronald C Petersen, Jennifer Whitwell, Lea T Grinberg, Bruce Miller, Athena Schlereth, William W Seeley, Salvatore Spina, Murray Grossman, David J Irwin, Edward B Lee, EunRan Suh, John Q Trojanowski, Vivianna M Van Deerlin, David A Wolk, Theresa R Connors, Patrick M Dooley, Matthew P Frosch, Derek H Oakley, Iban Aldecoa, Mircea Balasa, Ellen Gelpi, Sergi Borrego-Écija, Rosa Maria de Eugenio Huélamo, Jordi Gascon-Bayarri, Raquel Sánchez-Valle, Pilar Sanz-Cartagena, Gerard Piñol-Ripoll, Laura Molina-Porcel, Eileen H Bigio, Margaret E Flanagan, Tamar Gefen, Emily J Rogalski, Sandra Weintraub, Javier Redding-Ochoa, Koping Chang, Juan C Troncoso, Stefan Prokop, Kathy L Newell, Bernardino Ghetti, Matthew Jones, Anna Richardson, Andrew C Robinson, Federico Roncaroli, Julie Snowden, Kieren Allinson, Oliver Green, James B Rowe, Poonam Singh, Thomas G Beach, Geidy E Serrano, Xena E Flowers, James E Goldman, Allison C Heaps, Sandra P Leskinen, Andrew F Teich, Sandra E Black, Julia L Keith, Mario Masellis, Istvan Bodi, Andrew King, Safa-Al Sarraj, Claire Troakes, Glenda M Halliday, John R Hodges, Jillian J Kril, John B Kwok, Olivier Piguet, Marla Gearing, Thomas Arzberger, Sigrun Roeber, Johannes Attems, Christopher M Morris, Alan J Thomas, Bret M. Evers, Charles L White, Naguib Mechawar, Anne A Sieben, Patrick P Cras, Bart B De Vil, Peter Paul P.P. De Deyn, Charles Duyckaerts, Isabelle Le Ber, Danielle Seihean, Sabrina Turbant-Leclere, Ian R MacKenzie, Catriona McLean, Matthew D Cykowski, John F Ervin, Shih-Hsiu J Wang, Caroline Graff, Inger Nennesmo, Rashed M Nagra, James Riehl, Gabor G Kovacs, Giorgio Giaccone, Benedetta Nacmias, Manuela Neumann, Lee-Cyn Ang, Elizabeth C Finger, Cornelis Blauwendraat, Mike A Nalls, Andrew B Singleton, Dan Vitale, Cristina Cunha, Agostinho Carvalho, Zbigniew K Wszolek, Huw R Morris, Rosa Rademakers, John A Hardy, Dennis W Dickson, Jonathan D Rohrer, Owen A Ross

Publikováno v: medRxiv

BackgroundPick’s disease (PiD) is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. PiD is pathologically defined by argyrophilic inclusion Pick bodies and ballooned neurons in the frontal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eb436da4c7362a38f76655e19fddf0a
https://europepmc.org/articles/PMC10168402/