Frontotemporal dementia

NT Olney, S Spina, BL Miller - Neurologic clinics, 2017 - neurologic.theclinics.com
Frontotemporal dementia (FTD) has undergone numerous changes in nomenclature and
categorization schemes since it was first described by Pick in 1892. Presently, FTD …

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

EB Lee, VMY Lee, JQ Trojanowski - Nature Reviews Neuroscience, 2012 - nature.com
RNA-binding proteins, and in particular TAR DNA-binding protein 43 (TDP43), are central to
the pathogenesis of motor neuron diseases and related neurodegenerative disorders …

Genetics of dementia

CT Loy, PR Schofield, AM Turner, JBJ Kwok - The Lancet, 2014 - thelancet.com
Summary 25% of all people aged 55 years and older have a family history of dementia. For
most, the family history is due to genetically complex disease, where many genetic …

Frontotemporal dementia

D Neary, J Snowden, D Mann - The Lancet Neurology, 2005 - thelancet.com
Frontotemporal dementia (FTD) is a focal clinical syndrome characterised by profound
changes in personality and social conduct and associated with circumscribed degeneration …

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

ME Ward, R Chen, HY Huang, C Ludwig… - Science translational …, 2017 - science.org
Heterozygous mutations in the GRN gene lead to progranulin (PGRN) haploinsufficiency
and cause frontotemporal dementia (FTD), a neurodegenerative syndrome of older adults …

Diagnosis and management of behavioral variant frontotemporal dementia

PS Pressman, BL Miller - Biological psychiatry, 2014 - Elsevier
Frontotemporal dementia was documented over a century ago. The last decade, however,
has seen substantial changes in our conceptions of this increasingly recognized disorder …

The role of tau proteoforms in health and disease

Z Waheed, J Choudhary, FH Jatala, Fatimah… - Molecular …, 2023 - Springer
Tau is a microtubule-associated binding protein in the nervous system that is known for its
role in stabilizing microtubules throughout the nerve cell. It accumulates as β-sheet-rich …

Progranulin mutations as risk factors for Alzheimer disease

DC Perry, M Lehmann, JS Yokoyama… - JAMA …, 2013 - jamanetwork.com
Importance Mutations in the progranulin gene are known to cause diverse clinical
syndromes, all attributed to frontotemporal lobar degeneration. We describe 2 patients with …

Trafficking in Alzheimer's disease: modulation of APP transport and processing by the transmembrane proteins LRP1, SorLA, SorCS1c, sortilin, and calsyntenin

S Eggert, C Thomas, S Kins, G Hermey - Molecular neurobiology, 2018 - Springer
The amyloid precursor protein (APP), one key player in Alzheimer's disease (AD), is
extensively processed by different proteases. This leads to the generation of diverging …

Progranulin does not bind tumor necrosis factor (TNF) receptors and is not a direct regulator of TNF-dependent signaling or bioactivity in immune or neuronal cells

X Chen, J Chang, Q Deng, J Xu, TA Nguyen… - Journal of …, 2013 - Soc Neuroscience
Progranulin (PGRN) is a secreted glycoprotein expressed in neurons and glia that is
implicated in neuronal survival on the basis that mutations in the GRN gene causing …