Mapping the progression of progranulin-associated frontotemporal lobar degeneration

JD Rohrer, JD Warren, J Barnes, S Mead… - Nature Clinical Practice …, 2008 - nature.com
Background A 55-year-old woman was followed over a 13-year period as part of a
longitudinal study of people at risk for familial dementia. She was a member of a family with …

Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family

A Sieben, S Van Mossevelde, E Wauters… - Alzheimer's research & …, 2018 - Springer
Background In this paper, we describe the clinical and neuropathological findings of nine
members of the Belgian progranulin gene (GRN) founder family. In this family, the loss-of …

HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin‐positive, tau‐negative inclusions caused by a missense mutation in the signal peptide of …

O Mukherjee, P Pastor, NJ Cairns… - Annals of Neurology …, 2006 - Wiley Online Library
Objective Familial autosomal dominant frontotemporal dementia with ubiquitin‐positive, tau‐
negative inclusions in the brain linked to 17q21‐22 recently has been reported to carry null …

Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with …

SM Pickering-Brown, S Rollinson, D Du Plessis… - Brain, 2008 - academic.oup.com
Two hundred and twenty-three consecutive patients fulfilling clinical diagnostic criteria for
frontotemporal lobar degeneration (FTLD), and 259 patients with motor neuron disease …

Combined transcriptomics and proteomics in frontal cortex area 8 in frontotemporal lobar degeneration linked to C9ORF72 expansion

P Andres-Benito, E Gelpi, M Povedano… - Journal of …, 2019 - content.iospress.com
Background: Frontotemporal lobar degeneration with TDP-43 immunoreactive inclusions
(FTLD-TDP) may appear as sporadic (sFTLD-TDP) or linked to mutations in various genes …

Loss of function mutations in the progranulin gene are related to pro-inflammatory cytokine dysregulation in frontotemporal lobar degeneration patients

P Bossù, F Salani, A Alberici, S Archetti… - Journal of …, 2011 - Springer
The progranulin gene (PGRN) encodes a pleiotropic molecule with anti-inflammatory
actions and neuronal protective effects. Accordingly, PGRN-deficient mice have been …

Brain magnetic resonance imaging structural changes in a pedigree of asymptomatic progranulin mutation carriers

B Borroni, A Alberici, E Premi, S Archetti… - Rejuvenation …, 2008 - liebertpub.com
Mutations in the progranulin (PGRN) gene have been recently demonstrated as a cause of
frontotemporal lobar degeneration (FTLD) with ubiquitin-immunoreactive neuronal inclusion …

Distinct genetic forms of frontotemporal dementia

H Seelaar, W Kamphorst, SM Rosso, A Azmani… - Neurology, 2008 - AAN Enterprises
Background: Frontotemporal dementia (FTD) is the second most common type of presenile
dementia and can be distinguished into various clinical variants. The identification of MAPT …

Familial benign frontotemporal deterioration with C9ORF72 hexanucleotide expansion

E Gómez‐Tortosa, S Serrano… - Alzheimer's & …, 2014 - Wiley Online Library
Background In recent years, a benign variant of frontotemporal lobar degeneration (FTLD)
has been recognized, with a particularly slow progression of cognitive deficits and scarce …

Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation

L Skoglund, RM Brundin, T Olofsson, H Kalimo… - Neurogenetics, 2009 - Springer
Mutations in the progranulin (PGRN) gene have recently been identified in families with
frontotemporal lobar degeneration and ubiquitin-positive brain inclusions linked to …