Progranulin mutations in clinical and neuropathological Alzheimer's disease

BN Vardarajan, D Reyes‐Dumeyer… - Alzheimer's & …, 2022 - Wiley Online Library
Introduction Progranulin (GRN) mutations occur in frontotemporal lobar degeneration
(FTLD) and in Alzheimer's disease (AD), often with TDP‐43 pathology. Methods We …

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

NC Finch, M Baker, R Crook, K Swanson, K Kuntz… - Brain, 2009 - academic.oup.com
Mutations in the progranulin gene (GRN) are an important cause of frontotemporal lobar
degeneration (FTLD) with ubiquitin and TAR DNA-binding protein 43 (TDP43)-positive …

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 …

The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration

CE Yu, TD Bird, LM Bekris, TJ Montine… - Archives of …, 2010 - jamanetwork.com
Background Mutation in the progranulin gene (GRN) can cause frontotemporal dementia
(FTD). However, it is unclear whether some rare FTD-relatedGRNvariants are pathogenic …

Progranulin gene mutations in Chinese patients with frontotemporal dementia: a case report and literature review

M Chu, H Nan, D Jiang, L Liu, A Huang… - Journal of …, 2023 - content.iospress.com
Background: Progranulin (GRN) mutations in frontotemporal dementia (FTD) have been less
frequently reported in China than in Western countries. Objective: This study reports a novel …

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

N Brouwers, K Sleegers, S Engelborghs… - Neurology, 2008 - AAN Enterprises
Objective: Loss-of-function mutations in the progranulin gene (PGRN) were identified in
frontotemporal lobar degeneration (FTLD) with ubiquitin-immunoreactive neuronal …

Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA‐binding protein 43 inclusions) in missense progranulin mutation C ys139 …

V Redaelli, G Rossi, E Maderna, GG Kovacs… - Brain …, 2018 - Wiley Online Library
Null mutations in progranulin gene (GRN) reduce the progranulin production resulting in
haploinsufficiency and are tightly associated with tau‐negative frontotemporal lobar …

Novel progranulin variants do not disrupt progranulin secretion and cleavage

CM Karch, AT Jeng, T Skorupa, C Cruchaga… - Neurobiology of …, 2013 - Elsevier
A subset of frontotemporal dementia cases are neuropathologically defined by tau-negative,
TAR DNA-binding protein-43, and ubiquitin-positive inclusions in the brain and are …

Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia

C Wilke, F Gillardon, C Deuschle, MA Hobert… - Neurodegenerative …, 2017 - karger.com
Abstract Background and Objective: Reduced progranulin levels are a hallmark of
frontotemporal dementia (FTD) caused by loss-of-function (LoF) mutations in the progranulin …

Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive …

M Carecchio, C Fenoglio, M De Riz, I Guidi… - Journal of the …, 2009 - Elsevier
Progranulin (GRN) mutations are associated with different clinical phenotypes, including
Frontotemporal Lobar Degeneration (FTLD), Corticobasal Degeneration and Alzheimer's …