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 …

A Novel GRN Mutation (GRN c.708+6_+9delTGAG) in Frontotemporal Lobar Degeneration With TDP-43–Positive Inclusions: Clinicopathologic Report of 6 Cases

EN Bit-Ivan, E Suh, HS Shim… - … of Neuropathology & …, 2014 - academic.oup.com
Understanding of frontotemporal lobar degeneration, the underlying pathology most often
linked to the clinical diagnosis of frontotemporal dementia, is rapidly increasing. Mutations in …

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 …

Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN gene

G Marcon, G Rossi, G Giaccone… - Journal of …, 2011 - content.iospress.com
Mutations in the progranulin gene (GRN) were recently identified as an important cause of
familial frontotemporal dementia (FTD). More than 60 pathogenic mutations have been …

A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression

G Rossi, E Piccoli, L Benussi, F Caso… - Journal of …, 2011 - content.iospress.com
Frontotemporal lobar degeneration (FTLD) is a neurodegenerative disorder characterized
by behavioural disturbances and cognitive decline. Here we describe an Italian family with …

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 …

Evidence of pre-synaptic dopaminergic deficit in a patient with a novel progranulin mutation presenting with atypical parkinsonism

M Carecchio, D Galimberti, C Fenoglio… - Journal of …, 2014 - content.iospress.com
Parkinsonism can be the presenting feature of frontotemporal dementia due to Progranulin
(GRN) mutations or develop over the course of the disease, mimicking idiopathic …

Higher than expected progranulin mutation rate in a case series of Italian FTLD patients

L Tremolizzo, G Gelosa, A Galbussera… - Alzheimer Disease & …, 2009 - journals.lww.com
To the Editor: Frontotemporal Lobar Degeneration (FTLD) recognizes a high familial
incidence, with up to 50% of patients reporting a positive family history for cognitive …

Does TDP-43 type confer a distinct pattern of atrophy in frontotemporal lobar degeneration?

JL Whitwell, CR Jack Jr, JE Parisi, ML Senjem… - Neurology, 2010 - AAN Enterprises
Objective: To determine whether TDP-43 type is associated with distinct patterns of brain
atrophy on MRI in subjects with pathologically confirmed frontotemporal lobar degeneration …

Common Variant in GRN Is a Genetic Risk Factor for Hippocampal Sclerosis in the Elderly

DW Dickson, M Baker, R Rademakers - Neurodegenerative Diseases, 2010 - karger.com
Abstract Background: Hippocampal sclerosis (HpScl) is common in elderly subjects with
dementia, either alone or accompanied by other pathologic processes. It is also found in> …