Results 21 to 30 of about 50,646 (233)

Mislocalization of FTD3-associated mutant CHMP2B to the nucleus of human neurons due to loss of a nuclear export signal

Acta Neuropathologica Communications
Frontotemporal dementia linked to chromosome 3 (FTD3) is caused by a splice site point mutation in CHMP2B, resulting in the production of mutant proteins CHMP2BIn5 and CHMP2BΔ10.
Yong-Woo Jun, Evan P. Hass, Soojin Lee, Thomas G. Fazzio, Fen-Biao Gao   +4 more
doaj   +1 more source

Pharmacological treatment of frontotemporal lobar degeneration: systematic review Tratamento farmacológico da degeneração lobar frontotemporal: revisão sistemática

Brazilian Journal of Psychiatry, 2011
OBJECTIVE: To identify the therapeutic options available for treatment of cognitive and behavioral symptoms in frontotemporal lobar degeneration. METHOD: Systematic review using the descriptors "frontotemporal lobar degeneration" OR "frontotemporal ...
Maria da Glória Portugal, Valeska Marinho, Jerson Laks   +2 more
doaj   +1 more source

Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons, Nuria Guillen, Jordi Sarto, Neus Falgàs, Sergi Borrego‐Écija, Diana Esteller‐Gauxax, Magda Castellví, Adrià Tort‐Merino, Agnès Pérez‐Millan, Anna Antonell, Josep M. Augè Fradera, Gerard Piñol, Iolanda Riba, Anna Carnes‐Vendrell, Marta Cullell, Maria Teresa Osuna, Lorena Bajo, Teresa Romero, Eva Bonjoch, Joan Bello, Susana Fernández, Marta Balagué, Isabel Gómez‐Ruiz, Anuncia Boltes, Claustre Pont, Raquel Cuevas, Sara Carrillo, Laura Iglesias, Teresa Maria Casadevall Codina, Lorena Grau Guinea, Fernando Jose Espada, Raquel Sánchez‐Valle, Mircea Balasa, Albert Lladó   +33 more
wiley   +1 more source

Genetics of Frontotemporal Dementia [PDF]

Current Neurology and Neuroscience Reports, 2016
Frontotemporal dementia (FTD) is the second most common cause of dementia following Alzheimer's disease (AD). Between 20 and 50% of cases are familial. Mutations in MAPT, GRN and C9orf72 are found in 60% of familial FTD cases. C9orf72 mutations are the most common and account for 25%. Rarer mutations (
Diana A, Olszewska, Roisin, Lonergan, Emer M, Fallon, Tim, Lynch   +3 more
openaire   +4 more sources

The Ku80-p53-SIRT1 axis in DNA damage response contributes to sporadic and familial ALS and FTD

Nature Communications
Although TDP-43 pathology is found in most sporadic and familial ALS and FTD cases, other shared pathogenic mechanisms remain largely unknown. Here we show that SIRT1 levels are decreased and acetylated p53 levels are increased in iPSC-derived neurons ...
Yong-Woo Jun, Soojin Lee, Sandra Almeida, Kristine K. Freude, Justin K. Ichida, Fen-Biao Gao   +5 more
doaj   +1 more source

Habitual glucosamine use, APOE genotypes, and risk of incident cause-specific dementia in the older population

Alzheimer’s Research & Therapy, 2023
Background The relationship of glucosamine use with incident dementia in the older population remains uncertain. We aimed to evaluate the longitudinal association between habitual glucosamine supplement and the risk of cause-specific dementia and examine
Chun Zhou, Yanjun Zhang, Sisi Yang, Ziliang Ye, Qimeng Wu, Mengyi Liu, Panpan He, Yuanyuan Zhang, Xianhui Qin   +8 more
doaj   +1 more source

Problematic Internet Use in Frontotemporal Dementia: A Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The present study investigated problematic internet use (PIU) among 61 patients with frontotemporal dementia (FTD) compared to a cohort of 354 patients with mild cognitive impairment (MCI) and Alzheimer's dementia. PIU was identified in 22.9% of FTD patients compared to only 0.8% of AD patients (p < 0.001). Behaviors included compulsive social
Daniele Urso, Giuseppe Volpe, Agnese Valguarnera, Davide Vilella, Alessandra Vitulli, Valentina Gnoni, Alessia Giugno, Eleonora Rollo, Mark D. Griffiths, Giancarlo Logroscino   +9 more
wiley   +1 more source

Systemic Sarcoidosis Mimicking a Behavioural Variant of Frontotemporal Dementia

Case Reports in Neurological Medicine, 2015
Among rare neurological manifestations, a progressive dementia may exceptionally be the revealing clinical feature of a sarcoidosis. Diagnosis may then be difficult, especially when systemic signs are missing or latent, with a risk of therapeutic delay ...
Anne De Maindreville, Line Bedos, Serge Bakchine   +2 more
doaj   +1 more source

Impact of Plasma p‐tau181 on Cognition, Motor Phenotypes, and Disease Course in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Phosphorylated tau181 (p‐tau181), an Alzheimer's disease biomarker, was recently evaluated in amyotrophic lateral sclerosis (ALS). We investigated plasma p‐tau181 in 202 ALS/ALS‐FTD patients and 94 healthy controls, assessing cognitive performance, motor function, and longitudinal dynamics.
Elisabeth Kasper, Annaliis Lehto, Nina Nordmann, Oliver Peters, Julian Hellmann, Josef Priller, Eike Jakob Spruth, Gabor C. Petzold, Ina Vogt, Patrick Weydt, Sarah Bernsen, Elisabeth Dinter, Björn Falkenburger, René Günther, Emrah Düzel, Wenzel Glanz, Matthis Synofzik, Lukas Beichert, Annika Spottke, Michael Wagner, Frederic Brosseron, Matthias C. Schmid, Anja Schneider, Stefan Teipel, Johannes Prudlo, Andreas Hermann   +25 more
wiley   +1 more source

The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD

Cell Reports
Summary: GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown.
Dilara O. Halim, Gopinath Krishnan, Evan P. Hass, Soojin Lee, Mamta Verma, Sandra Almeida, Yuanzheng Gu, Deborah Y. Kwon, Thomas G. Fazzio, Fen-Biao Gao   +9 more
doaj   +1 more source