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 levels in plasma and cerebrospinal fluid in granulin mutation carriers

LHH Meeter, H Patzke, G Loewen… - Dementia and geriatric …, 2016 - karger.com
Background: Pathogenic mutations in the granulin gene (GRN) are causative in 5-10% of
patients with frontotemporal dementia (FTD), mostly leading to reduced progranulin protein …

Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases: a multicenter Italian study

R Ghidoni, E Stoppani, G Rossi, E Piccoli… - Neurodegenerative …, 2012 - karger.com
Background: Recently, attention was drawn to a role for progranulin in the central nervous
system with the identification of mutations in the progranulin gene (GRN) as an important …

Progranulin locus deletion in frontotemporal dementia

I Gijselinck, J Van der Zee, S Engelborghs… - Human …, 2008 - Wiley Online Library
Abstract Ubiquitin‐positive, tau‐negative, frontotemporal dementia (FTD) is caused by null
mutations in progranulin (PGRN; HUGO gene symbol GRN), suggesting a haploinsufficiency …

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 …

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 …

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

J Gass, A Cannon, IR Mackenzie… - Human molecular …, 2006 - academic.oup.com
Null mutations in the progranulin gene (PGRN) were recently reported to cause tau-negative
frontotemporal dementia linked to chromosome 17. We assessed the genetic contribution of …

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 …

Serum biomarker for progranulin‐associated frontotemporal lobar degeneration

K Sleegers, N Brouwers, P Van Damme… - Annals of Neurology …, 2009 - Wiley Online Library
Objective Mutations that lead to a loss of progranulin (PGRN) explain a considerable portion
of the occurrence of frontotemporal lobar degeneration. We tested a biomarker allowing …

Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration

AS Chen-Plotkin, F Geser, JB Plotkin… - Human molecular …, 2008 - academic.oup.com
Frontotemporal lobar degeneration is a fatal neurodegenerative disease that results in
progressive decline in behavior, executive function and sometimes language. Disease …