Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report

PT Nelson, DW Dickson, JQ Trojanowski, CR Jack… - Brain, 2019 - academic.oup.com
We describe a recently recognized disease entity, limbic-predominant age-related TDP-43
encephalopathy (LATE). LATE neuropathological change (LATE-NC) is defined by a …

Parkinson's disease and parkinsonism: neuropathology

DW Dickson - Cold Spring Harbor perspectives …, 2012 - perspectivesinmedicine.cshlp.org
Parkinsonism, the clinical term for a disorder with prominent bradykinesia and variable
associated extrapyramidal signs and symptoms, is accompanied by degeneration of the …

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 …

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 …

[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 …

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 …

The heritability and genetics of frontotemporal lobar degeneration

JD Rohrer, R Guerreiro, J Vandrovcova, J Uphill… - Neurology, 2009 - AAN Enterprises
Background: Frontotemporal lobar degeneration (FTLD) is a genetically and pathologically
heterogeneous neurodegenerative disorder. Methods: We collected blood samples from a …

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 …

Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice

F Yin, R Banerjee, B Thomas, P Zhou, L Qian… - Journal of Experimental …, 2010 - rupress.org
Progranulin (PGRN) is a widely expressed protein involved in diverse biological processes.
Haploinsufficiency of PGRN in the human causes tau-negative, ubiquitin-positive …