Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation

AC Bruni, P Momeni, L Bernardi, C Tomaino… - Neurology, 2007 - AAN Enterprises
Background: Frontotemporal dementia (FTD) in several 17q21-linked families was recently
explained by truncating mutations in the progranulin gene (GRN). Objective: To determine …

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 …

Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family

HH Chiang, L Rosvall, J Brohede, K Axelman… - Alzheimer's & …, 2008 - Elsevier
BACKGROUND: Frontotemporal dementia (FTD) is a neurodegenerative disease
characterized by cognitive impairment, language dysfunction, and/or changes in personality …

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 …

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 …

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

I Le Ber, A Camuzat, D Hannequin, F Pasquier… - Brain, 2008 - academic.oup.com
Frontotemporal dementia (FTD), characterized by behavioural and language disorders, is a
clinically, genetically and pathologically heterogeneous group of diseases. The most …

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series

B Borroni, S Archetti, A Alberici, C Agosti, M Gennarelli… - Neurogenetics, 2008 - Springer
Frontotemporal lobar degeneration (FTLD) recognises high familial incidence, with up to
50% of patients reported to have a family history of similar dementia. It has been reported …

Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations

VM Van Deerlin, EMC Wood, P Moore… - Archives of …, 2007 - jamanetwork.com
Background Patients with frontotemporal dementia due to mutation of progranulin may have
a distinct phenotype. Objective To identify distinct clinical and pathologic features of patients …

A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia

T Lashley, JD Rohrer, C Mahoney… - Neuropathology and …, 2014 - Wiley Online Library
Aims Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative
disease and is the second most common form of young onset dementia after A lzheimer's …

Neuropsychological features of asymptomatic c. 709-1G> A progranulin mutation carriers

M Barandiaran, A Estanga, F Moreno… - Journal of the …, 2012 - cambridge.org
Mutations in the progranulin (PGRN) gene have been identified as a cause of frontotemporal
dementia (FTD). However, little is known about the neuropsychological abilities of …