The amyloid cascade hypothesis: an updated critical review

KP Kepp, NK Robakis, PF Høilund-Carlsen, SL Sensi… - Brain, 2023 - academic.oup.com
Results from recent clinical trials of antibodies that target amyloid-β (Aβ) for Alzheimer's
disease have created excitement and have been heralded as corroboration of the amyloid …

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

IRA Mackenzie, R Rademakers… - The Lancet Neurology, 2010 - thelancet.com
Abnormal intracellular protein aggregates comprise a key characteristic in most
neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and …

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

M Prudencio, J Humphrey, S Pickles… - The Journal of …, 2020 - Am Soc Clin Investig
No treatment for frontotemporal dementia (FTD), the second most common type of early-
onset dementia, is available, but therapeutics are being investigated to target the 2 main …

[PDF][PDF] Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

KR Smith, J Damiano, S Franceschetti… - The American Journal of …, 2012 - cell.com
We performed hypothesis-free linkage analysis and exome sequencing in a family with two
siblings who had neuronal ceroid lipofuscinosis (NCL). Two linkage peaks with maximum …

Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

H Seelaar, JD Rohrer, YAL Pijnenburg… - Journal of Neurology …, 2011 - jnnp.bmj.com
Frontotemporal dementia (FTD) is the second most common young-onset dementia and is
clinically characterised by progressive behavioural change, executive dysfunction and …

The lysosomal function of progranulin, a guardian against neurodegeneration

DH Paushter, H Du, T Feng, F Hu - Acta neuropathologica, 2018 - Springer
Progranulin (PGRN), encoded by the GRN gene in humans, is a secreted growth factor
implicated in a multitude of processes ranging from regulation of inflammation to wound …

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD …

S Al-Sarraj, A King, C Troakes, B Smith… - Acta …, 2011 - Springer
Neuronal cytoplasmic inclusions (NCIs) containing phosphorylated TDP-43 (p-TDP-43) are
the pathological hallmarks of motor neuron disease/amyotrophic lateral sclerosis …

[PDF][PDF] Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin

F Hu, T Padukkavidana, CB Vægter, OA Brady… - Neuron, 2010 - cell.com
The most common inherited form of Frontotemporal Lobar Degeneration (FTLD) known
stems from Progranulin (GRN) mutation and exhibits TDP-43 plus ubiquitin aggregates …

Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration

NJ Cairns, EH Bigio, IRA Mackenzie, M Neumann… - Acta …, 2007 - Springer
The aim of this study was to improve the neuropathologic recognition and provide criteria for
the pathological diagnosis in the neurodegenerative diseases grouped as frontotemporal …

Neuropathological background of phenotypical variability in frontotemporal dementia

KA Josephs, JR Hodges, JS Snowden… - Acta …, 2011 - Springer
Frontotemporal lobar degeneration (FTLD) is the umbrella term encompassing a
heterogeneous group of pathological disorders. With recent discoveries, the FTLDs have …