Frontotemporal dementia and parkinsonism associated with the IVS1+ 1G→ A mutation in progranulin: a clinicopathologic study

BF Boeve, M Baker, DW Dickson, JE Parisi, C Giannini… - Brain, 2006 - academic.oup.com
We previously reported a kindred with three cases of dementia, in which the proband
exhibited features typical of frontotemporal dementia and parkinsonism (FTDP). An arginine …

The neuropathology and clinical phenotype of FTD with progranulin mutations

IRA Mackenzie - Acta neuropathologica, 2007 - Springer
Mutations in the progranulin gene (PGRN), on chromosome 17q21, have recently been
identified as a major cause of familial frontotemporal dementia (FTD). These cases have a …

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 …

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) …

Alzheimer disease–like phenotype associated with the c. 154delA mutation in progranulin

BJ Kelley, W Haidar, BF Boeve, M Baker… - Archives of …, 2010 - jamanetwork.com
Objective To characterize a kindred with a familial neurodegenerative disorder associated
with a mutation in progranulin (PGRN), with emphasis on the unique clinical features in this …

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 …

A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology

JB Leverenz, CE Yu, TJ Montine, E Steinbart… - Brain, 2007 - academic.oup.com
Mutations in the progranulin (GRN) gene have recently been reported as a cause of the
frontotemporal dementia (FTD) syndrome. We performed a clinical, neuropathological and …

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 …

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 …

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family

N Brouwers, K Nuytemans, J van der Zee… - Archives of …, 2007 - jamanetwork.com
Background Progranulin gene (PGRN) haploinsufficiency was recently associated with
ubiquitin-positive frontotemporal lobar degeneration linked to chromosome 17q21 (FTLDU …