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 …

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 …

A novel deletion in progranulin gene is associated with FTDP-17 and CBS

L Benussi, G Binetti, E Sina, L Gigola, T Bettecken… - Neurobiology of …, 2008 - Elsevier
In the last decade familial frontotemporal dementia (FFTD) has emerged as a distinct clinical
disease entity characterized by clinical and genetic heterogeneity. Here, we provide an …

Familial frontotemporal dementia with ubiquitin inclusion bodies and without motor neuron disease

E Kövari, G Leuba, A Savioz, K Saini, R Anastasiu… - Acta …, 2000 - Springer
Frontotemporal dementia (FTD) is the second most common degenerative dementia after
Alzheimer's disease and its Lewy body variant. Clinical pathology can be subdivided in …

[HTML][HTML] Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations

SE Davis, AK Cook, JA Hall, Y Voskobiynyk… - Acta neuropathologica …, 2023 - Springer
Loss of function progranulin (GRN) mutations are a major autosomal dominant cause of
frontotemporal dementia (FTD). Patients with FTD due to GRN mutations (FTD-GRN) …

Frontotemporal lobar degeneration: clinical and pathological relationships

J Snowden, D Neary, D Mann - Acta neuropathologica, 2007 - Springer
Frontotemporal lobar degeneration (FTLD) encompasses a heterogeneous group of clinical
syndromes that include frontotemporal dementia (FTD), frontotemporal dementia with motor …

TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions

NJ Cairns, M Neumann, EH Bigio, IE Holm… - The American journal of …, 2007 - Elsevier
TAR DNA-binding protein 43 (TDP-43) is a major pathological protein of sporadic and
familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions …

Frontotemporal dementia with ubiquitinated cytoplasmic and intranuclear inclusions

J Woulfe, A Kertesz, DG Munoz - Acta neuropathologica, 2001 - Springer
Dementia of motor neuron disease type (DMND) is a variety of frontotemporal dementia
(FTD) which is pathologically defined by characteristic neuronal ubiquitinated, tau-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 …

Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis–frontotemporal dementia phenotypes

JC Schymick, Y Yang, PM Andersen… - Journal of Neurology …, 2007 - jnnp.bmj.com
Objective: Mutations in the progranulin (PGRN) gene were recently described as the cause
of ubiquitin positive frontotemporal dementia (FTD). Clinical and pathological overlap …