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 …

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 …

Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia

O Mukherjee, J Wang, M Gitcho, S Chakraverty… - Human …, 2008 - Wiley Online Library
Frontotemporal dementia (FTD) is a clinical term encompassing dementia characterized by
the presence of two major phenotypes: 1) behavioral and personality disorder, and 2) …

Prominent phenotypic variability associated with mutations in Progranulin

BJ Kelley, W Haidar, BF Boeve, M Baker… - Neurobiology of …, 2009 - Elsevier
Mutations in progranulin (PGRN) are associated with frontotemporal dementia with or
without parkinsonism. We describe the prominent phenotypic variability within and among …

Loss of progranulin function in frontotemporal lobar degeneration

M Cruts, C Van Broeckhoven - Trends in Genetics, 2008 - cell.com
Frontotemporal lobar degeneration (FTLD) represents a collection of neurodegenerative
diseases of frontal and temporal brain regions. It has long been associated with mutations in …

The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene

IRA Mackenzie, M Baker, S Pickering-Brown… - Brain, 2006 - academic.oup.com
The most common pathology in frontotemporal dementia (FTD) is tau-negative, ubiquitin-
immunoreactive (ub-ir) neuronal inclusions (FTLD-U). Recently, we identified mutations in …

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

J van der Zee, I Le Ber, S Maurer‐Stroh… - Human …, 2007 - Wiley Online Library
Null mutations in the progranulin gene (GRN, PGRN) were recently identified as the causal
mechanism underlying frontotemporal dementia (FTD) with ubiquitin‐positive brain …

Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia

JS Snowden, SM Pickering-Brown, IR Mackenzie… - Brain, 2006 - academic.oup.com
Frontotemporal lobar degeneration (FTLD) refers to a focal, non-Alzheimer form of cerebral
degeneration that encompasses the distinct clinical syndromes of frontotemporal dementia …

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 …

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 …