Results 41 to 50 of about 21,388 (227)

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations

Acta Neuropathologica Communications, 2019
Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation ...
Andrew E. Arrant, Jonathan R. Roth, Nicholas R. Boyle, Shreya N. Kashyap, Madelyn Q. Hoffmann, Charles F. Murchison, Eliana Marisa Ramos, Alissa L. Nana, Salvatore Spina, Lea T. Grinberg, Bruce L. Miller, William W. Seeley, Erik D. Roberson   +12 more
doaj   +1 more source

Characterizing the Clinical Features and Atrophy Patterns of MAPT-Related Frontotemporal Dementia With Disease Progression Modeling [PDF]

, 2021
BACKGROUND AND OBJECTIVE: Mutations in the MAPT gene cause frontotemporal dementia (FTD). Most previous studies investigating the neuroanatomical signature of MAPT mutations have grouped all different mutations together and shown an association with ...
Borroni, B, Seelaar, H, Moreno, F, Bocchetta, M, Butler, C, Alexander, DC, Young, AL, Convery, RS, Otto, M, Greaves, CV, Jiskoot, L, Genetic FTD Initiative (GENFI), Tartaglia, MC, Ducharme, S, Danek, A, Graff, C, Sanchez-Valle, R, Laforce, R, De Mendonça, A, Van Swieten, J, Tagliavini, F, Williams, SCR, Rohrer, JD, Cash, DM, Santana, I, Russell, LL, Gerhard, A, Galimberti, D, Vandenberghe, R, Finger, E, Levin, J, Peakman, G, Sorbi, S, Todd, E, Masellis, M, Synofzik, M, Williams, SC, Rowe, JB   +37 more
core   +1 more source

Lipid Metabolic Alterations in the ALS–FTD Spectrum of Disorders

Biomedicines, 2022
There is an increasing interest in the study of the relation between alterations in systemic lipid metabolism and neurodegenerative disorders, in particular in Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD).
Juan Miguel Godoy-Corchuelo, Luis C. Fernández-Beltrán, Zeinab Ali, María J. Gil-Moreno, Juan I. López-Carbonero, Antonio Guerrero-Sola, Angélica Larrad-Sainz, Jorge Matias-Guiu, Jordi A. Matias-Guiu, Thomas J. Cunningham, Silvia Corrochano   +10 more
doaj   +1 more source

Olfactory impairment in frontotemporal dementia: A systematic review and meta-analysis

Dementia & Neuropsychologia, 2019
. Frontotemporal dementia (FTD) presents clinically in three variants: one behavioral and two with progressive primary aphasia - non-fluent/agrammatic and semantic. Defined by the degenerative process and cerebral atrophy, olfactory dysfunction occurs in
Maren de Moraes e Silva, Camila Poletto Viveiros, Nikolai José Eustátios Kotsifas, Alexia Duarte, Evelyn Dib, Pilar Bueno Siqueira Mercer, Renata Ramina Pessoa, Maria Carolina Zavagna Witt   +7 more
doaj   +1 more source

Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort. [PDF]

Alzheimers Dement, 2020
AbstractIntroductionBehavioral variant frontotemporal dementia (bvFTD) may present sporadically or due to an autosomal dominant mutation. Characterization of both forms will improve understanding of the generalizability of assessments and treatments.MethodsA total of 135 sporadic (s‐bvFTD; mean age 63.3 years; 34% female) and 99 familial (f‐bvFTD; mean
Heuer HW, Wang P, Rascovsky K, Wolf A, Appleby B, Bove J, Bordelon Y, Brannelly P, Brushaber DE, Caso C, Coppola G, Dickerson B, Dickinson S, Domoto-Reilly K, Faber K, Ferrall J, Fields J, Fishman A, Fong J, Foroud T, Forsberg LK, Gearhart D, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Haley D, Hsiung GY, Huey E, Irwin D, Jones D, Kantarci K, Karydas A, Kaufer D, Kerwin D, Knopman D, Kornak J, Kramer JH, Kraft R, Kremers WK, Kukull W, Litvan I, Ljubenkov P, Mackenzie IR, Maldonado M, Manoochehri M, McGinnis S, McKinley E, Mendez MF, Miller BL, Onyike C, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Roberson ED, Rogalski E, Sengdy P, Shaw L, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski J, Weintraub S, Wong B, Wszolek Z, Boeve BF, Rosen HJ, Boxer AL, ARTFL and LEFFTDS consortia.   +77 more
europepmc   +6 more sources

Frontotemporal dementia (FTD) and genetic mutations including progranulin gene

Rinsho Shinkeigaku, 2008
Research on familial frontotemporal lobar degeneration (FTLD) has led to the discovery of disease-causing genes: microtubule-associated protein tau (MAPT), progranulin (PGRN) and valosin-containing protein (VCP). TAR DNA-binding protein of 43 kDa (TDP-43) has been identified as a major component of tau-negative ubiquitin-positive inclusions in familial
Arai, Tetsuaki, Hasegawa, Masato, Nishihara, Masugi, Nonaka, Takashi, Kametani, Fuyuki, Yoshida, Mari, Hashizume, Yoshio, Beach, Thomas G, Morita, Mitsuya, Nakano, Imaharu, Oda, Tatsuro, Tsuchiya, Kuniaki, Akiyama, Haruhiko   +12 more
openaire   +3 more sources

Exploring frontotemporal dementia through a case report: An emerging public health concern in disguise

Journal of Geriatric Mental Health, 2015
Dementia has been declared by the World Health Organization as a significant public health problem around the world. Frontotemporal dementia (FTD) is a lesser known, yet the second most common type of dementia among older adults under the age of 65 years.
Nitin Khadilkar, Swateja Nimkar
doaj   +1 more source

Small molecules targeting Progranulin as potential therapeutics for Frontotemporal Dementia (FTD) and other dementias [PDF]

Alzheimers Dement
AbstractBackgroundProgranulin (GRN) plays a critical role in familial frontotemporal dementia (fFTD), where GRN haploinsufficiency leads to reduction in PGRN levels in the brain, resulting in degeneration of neurons in the frontal lobe of brain responsible for personality, language, and behavior.
Chatterjee S, Lorenz‐Guertin J, Santos J, Bandyopadhyay M, Tomaszewski M, Dilley K, Hartman E, Sneddon S.   +7 more
europepmc   +2 more sources

Inhibition and Formation of Amyloid Fibrils in the Bulk and at the Interface of Biomolecular Condensates

Angewandte Chemie, EarlyView.
In this review, we discuss how biomolecular condensates can inhibit amyloid aggregation in their interior, while still facilitating fibril formation at the interface between the dense and dilute phases, where molecular and mesoscale properties are likely optimal to promote protein aggregation.
Marcell Papp, Chiara Morelli, Sarah Khawaja, Paolo Arosio   +3 more
wiley   +2 more sources

Brain functional network integrity sustains cognitive function despite atrophy in presymptomatic genetic frontotemporal dementia [PDF]

, 2020
Copyright © 2020 The Authors. Introduction: The presymptomatic phase of neurodegenerative disease can last many years, with sustained cognitive function despite progressive atrophy. We investigate this phenomenon in familial frontotemporal dementia (FTD).
Heller, C, Bocchetta, M, Flanagan, T, Neason, M, Castelo-Branco, M, Giaccone, G, Jones, PS, Karnath, HO, Bender, B, Jelic, V, Miltenberger, G, Bras, J, Arighi, A, Rohrer, JD, Santana, I, Díaz, Z, Tsvetanov, KA, de Arriba, M, Indakoetxea, B, Lombardi, G, Levin, J, Masellis, M, Benussi, L, Caroppo, P, Synofzik, M, Afonso, S, Cope, T, Borroni, B, Antonell, A, van Minkelen, R, Cash, D, Panman, J, Tartaglia, MC, Archetti, S, Borrego-Ecija, S, Laforce, R, Convery, R, Institutet, K, Fumagalli, G, Galimberti, D, Gabilondo, A, Mitchell, S, Meeter, L, Bessi, V, Black, S, Barandiaran, M, Loosli, S, Moore, KM, Gazzina, S, Padovani, A, Leitão, MJ, Otto, M, Fox, N, Ghidoni, R, Di Fede, G, Maruta, C, Bargalló, N, Hoegen, T, Jiskoot, L, Ducharme, S, Danek, A, Olives, J, Sanchez-Valle, R, van Swieten, J, Guerreiro, R, Freedman, M, Balasa, M, Duro, D, Gasparotti, R, Finger, E, Fenoglio, C, Ferreira, CB, Binetti, G, Cosseddu, M, Almeida, MR, Mead, S, Rowe, JB, Frisoni, G, Bruffaerts, R, Andersson, C, Moreno, F, Butler, C, Ferrari, C, Keren, R, Lladó, A, Nicholas, J, Bartha, R, Graff, C, Greaves, C, Tagliavini, F, Gorostidi, A, Gerhard, A, Ferreira, C, Langheinrich, T, Vandenberghe, R, de Mendonça, A, Sorbi, S, Gauthier, S, Nacmias, B, Anderl-Straub, S   +99 more
core   +1 more source