Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases

RJ Guerreiro, I Santana, JM Bras, T Revesz… - Movement …, 2008 - Wiley Online Library
Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin
positive frontotemporal dementia (FTD) in many families. Different frequencies of these …

Progranulin gene mutation with an unusual clinical and neuropathologic presentation

C Wider, RJ Uitti, ZK Wszolek, JY Fang… - … : official journal of the …, 2008 - Wiley Online Library
Progranulin gene (PGRN) mutations cause frontotemporal lobar degeneration with ubiquitin‐
positive inclusions (FTLD‐U). Patients usually present with a frontotemporal dementia …

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 …

Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease

A Rovelet-Lecrux, V Deramecourt, S Legallic… - Neurobiology of …, 2008 - Elsevier
Progranulin gene (PGRN) mutations cause ubiquitin-positive frontotemporal lobar
degeneration linked to chromosome 17 (FTLDU-17). The spectrum of known mutations …

Novel progranulin mutation detected in 2 patients with FTLD

L Skoglund, T Matsui, SH Freeman… - Alzheimer Disease & …, 2011 - journals.lww.com
Frontotemporal lobar degeneration (FTLD) with ubiquitin-positive, tau-negative inclusions,
and linkage to chromosome 17 was recently found to be caused by mutations in the …

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 …

Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration

J Krüger, AL Kaivorinne, B Udd… - European journal of …, 2009 - Wiley Online Library
Background and purpose: Mutations in the progranulin (PGRN) gene have recently been
associated with frontotemporal lobar degeneration (FTLD). The frequency of these mutations …

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 …

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 …

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 …