Results 31 to 40 of about 92,917 (264)

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

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

Physiological, behavioral and subjective sadness reactivity in frontotemporal dementia subtypes. [PDF]

, 2019
Frontotemporal dementia (FTD), a neurodegenerative disease broadly characterized by socioemotional impairments, includes three clinical subtypes: behavioral variant FTD (bvFTD), semantic variant primary progressive aphasia (svPPA) and non-fluent variant ...
Brown, Casey L, Casey, James J, Chen, Kuan-Hua, Hua, Alice Y, Levenson, Robert W, Lwi, Sandy J, Miller, Bruce L, Rosen, Howard J   +7 more
core  

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins [PDF]

, 2014
An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. A fundamental question is whether toxicity is driven by the repeat RNA itself and/or by dipeptide repeat proteins ...
Cabecinha, M, Clayton, EL, Cleverley, K, Devoy, A, Dols, J, Fisher, EMC, Fratta, P, Grönke, S, Hendrich, O, Isaacs, AM, Mizielinska, S, Moens, T, Niccoli, T, Nicoll, AJ, Norona, FE, Partridge, L, Pickering-Brown, S, Pietrzyk, J, Ridler, CE, Woollacott, IOC   +19 more
core   +1 more source

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

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

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations. [PDF]

, 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 ...
Arrant, Andrew E, Boyle, Nicholas R, Grinberg, Lea T, Hoffmann, Madelyn Q, Kashyap, Shreya N, Miller, Bruce L, Murchison, Charles F, Nana, Alissa L, Ramos, Eliana Marisa, Roberson, Erik D, Roth, Jonathan R, Seeley, William W, Spina, Salvatore   +12 more
core  

Dissociation of structural and functional integrities of the motor system in amyotrophic lateral sclerosis and behavioral-variant frontotemporal dementia [PDF]

, 2016
Background and Purpose: This study investigated the structural and functional changes in the motor system in amyotrophic lateral sclerosis (ALS; n=25) and behavioral-variant fronto-temporal dementia (bvFTD; n=17) relative to healthy controls (n=37 ...
Bae, Jong Seok, Burrell, James, Ferguson, Michele, Hodges, John R., Hornberger, Michael, Kiernan, Matthew C., Mioshi, Eneida, Simon, Neil, Tan, Rachel, Vucic, Steve   +9 more
core   +2 more sources

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source