Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia

JC Van Swieten, P Heutink - The Lancet Neurology, 2008 - thelancet.com
Background Frontotemporal dementia (FTD) is predominantly a presenile disorder that is
characterised by behavioural changes and cognitive impairment, particularly in language …

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 …

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

AS Chen-Plotkin, M Martinez-Lage… - Archives of …, 2011 - jamanetwork.com
Objective To assess the relative frequency of unique mutations and their associated
characteristics in 97 individuals with mutations in progranulin (GRN), an important cause of …

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→ T (Arg493X) mutation: an international initiative

R Rademakers, M Baker, J Gass, J Adamson… - The Lancet …, 2007 - thelancet.com
Background The progranulin gene (GRN) is mutated in 5–10% of patients with
frontotemporal lobar degeneration (FTLD) and in about 20% of patients with familial FTLD …

Progranulin null mutations in both sporadic and familial frontotemporal dementia

I Le Ber, J van Der Zee, D Hannequin… - Human …, 2007 - Wiley Online Library
Frontotemporal dementia (FTD) is the second most frequent type of neurodegenerative
dementias. Mutations in the progranulin gene (GRN, PGRN) were recently identified in …

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 …

Characteristics of frontotemporal dementia patients with a Progranulin mutation

ED Huey, J Grafman, EM Wassermann… - Annals of Neurology …, 2006 - Wiley Online Library
Abstract Objective Mutations in the Progranulin gene (PGRN) recently have been
discovered to be associated with frontotemporal dementia (FTD) linked to 17q21 without …

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 …

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 …

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 …