An update on genetic frontotemporal dementia

CV Greaves, JD Rohrer - Journal of neurology, 2019 - Springer
Frontotemporal dementia (FTD) is a highly heritable group of neurodegenerative disorders,
with around 30% of patients having a strong family history. The majority of that heritability is …

[HTML][HTML] Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis

J Root, P Merino, A Nuckols, M Johnson… - Neurobiology of disease, 2021 - Elsevier
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological …

The epidemiology of frontotemporal dementia

CU Onyike, J Diehl-Schmid - International review of psychiatry, 2013 - Taylor & Francis
Frontotemporal dementia, a heterogeneous neurodegenerative disorder, is a common
cause of young onset dementia (ie dementia developing in midlife or earlier). The estimated …

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

KM Moore, J Nicholas, M Grossman… - The Lancet …, 2020 - thelancet.com
Background Frontotemporal dementia is a heterogenous neurodegenerative disorder, with
about a third of cases being genetic. Most of this genetic component is accounted for by …

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 …

Progranulin, lysosomal regulation and neurodegenerative disease

AW Kao, A McKay, PP Singh, A Brunet… - Nature Reviews …, 2017 - nature.com
The discovery that heterozygous and homozygous mutations in the gene encoding
progranulin are causally linked to frontotemporal dementia and lysosomal storage disease …

TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

T Arai, M Hasegawa, H Akiyama, K Ikeda… - Biochemical and …, 2006 - Elsevier
Ubiquitin-positive tau-negative neuronal cytoplasmic inclusions and dystrophic neurites are
common pathological features in frontotemporal lobar degeneration (FTLD) with or without …

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 …

[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 …