FUS pathology defines the majority of tau-and TDP-43-negative frontotemporal lobar degeneration

H Urwin, KA Josephs, JD Rohrer, IR Mackenzie… - Acta …, 2010 - Springer
Through an international consortium, we have collected 37 tau-and TAR DNA-binding
protein 43 (TDP-43)-negative frontotemporal lobar degeneration (FTLD) cases, and present …

TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways

AS Chen-Plotkin, TL Unger, MD Gallagher… - Journal of …, 2012 - Soc Neuroscience
Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is a fatal
neurodegenerative disease with no available treatments. Mutations in the progranulin gene …

Progranulin gene therapy improves lysosomal dysfunction and microglial pathology associated with frontotemporal dementia and neuronal ceroid lipofuscinosis

AE Arrant, VC Onyilo, DE Unger… - Journal of …, 2018 - Soc Neuroscience
Loss-of-function mutations in progranulin, a lysosomal glycoprotein, cause
neurodegenerative disease. Progranulin haploinsufficiency causes frontotemporal dementia …

Progressive supranuclear palsy: pathology and genetics

DW Dickson, R Rademakers, ML Hutton - Brain Pathology, 2007 - Wiley Online Library
Progressive supranuclear palsy (PSP) is an atypical Parkinsonian disorder associated with
progressive axial rigidity, vertical gaze palsy, dysarthria and dysphagia …

Physiological and pathological functions of TMEM106B: a gene associated with brain aging and multiple brain disorders

T Feng, A Lacrampe, F Hu - Acta neuropathologica, 2021 - Springer
TMEM106B, encoding a lysosome membrane protein, has been recently associated with
brain aging, hypomyelinating leukodystrophy and multiple neurodegenerative diseases …

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

R Rademakers, JL Eriksen, M Baker… - Human molecular …, 2008 - academic.oup.com
Loss-of-function mutations in progranulin (GRN) cause ubiquitin-and TAR DNA-binding
protein 43 (TDP-43)-positive frontotemporal dementia (FTLD-U), a progressive …

The clinical spectrum of sporadic and familial forms of frontotemporal dementia

IOC Woollacott, JD Rohrer - Journal of neurochemistry, 2016 - Wiley Online Library
The term frontotemporal dementia (FTD) describes a clinically, genetically and
pathologically diverse group of neurodegenerative disorders. Symptoms of FTD can present …

Genetics of FTLD: overview and what else we can expect from genetic studies

C Pottier, TA Ravenscroft… - Journal of …, 2016 - Wiley Online Library
Frontotemporal lobar degeneration (FTLD) comprises a highly heterogeneous group of
disorders clinically associated with behavioral and personality changes, language …

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration

R Ghidoni, L Benussi, M Glionna, M Franzoni… - Neurology, 2008 - AAN Enterprises
Background: Mutations in the progranulin gene (PGRN) were identified as the causal
mechanism underlying frontotemporal lobar degeneration (FTLD). Most of these mutations …

Progranulin in neurodegenerative disease

TL Petkau, BR Leavitt - Trends in neurosciences, 2014 - cell.com
Loss-of-function mutations in the progranulin gene are a common cause of familial
frontotemporal dementia (FTD). The purpose of this review is to summarize the role of …