Microglia in frontotemporal lobar degeneration with progranulin or C9ORF72 mutations

N Sakae, SF Roemer, KF Bieniek… - Annals of Clinical …, 2019 - Wiley Online Library
Objective To identify clinicopathological differences between frontotemporal lobar
degeneration (FTLD) due to mutations in progranulin (FTLD‐GRN) and chromosome 9 open …

Case report: coexistence of C9orf72 expansion and progranulin mutation in a case of genetic frontotemporal dementia—clinical features and neuroimaging correlates

A Ghirelli, EG Spinelli, E Canu, T Domi, S Basaia… - Journal of …, 2023 - Springer
Frontotemporal lobar degeneration (FTLD) encompasses a group of clinical syndromes
characterized by a progressive change in behavior, and/or deterioration of language or …

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 …

Frontotemporal lobar degeneration: current knowledge and future challenges

C Cerami, E Scarpini, SF Cappa, D Galimberti - Journal of neurology, 2012 - Springer
Frontotemporal lobar degeneration (FTLD) is one of the most frequent neurodegenerative
disorders with a presenile onset. It presents with a spectrum of clinical manifestations …

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

KF Bieniek, ME Murray, NJ Rutherford… - Acta …, 2013 - Springer
An expanded GGGGCC hexanucleotide repeat in C9ORF72 is the most common genetic
cause of amyotrophic lateral sclerosis and frontotemporal lobar degeneration associated …

Genetic forms of frontotemporal lobar degeneration: current diagnostic approach and new directions in therapeutic strategies

L Sellami, D Saracino, I Le Ber - Revue neurologique, 2020 - Elsevier
Recent advances in the genetics of neurodegenerative diseases have substantially
improved our knowledge about the genetic causes of frontotemporal lobar degeneration …

Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia

A Mignarri, S Battistini, MLT Pitinca, L Monti… - Journal of the …, 2014 - jns-journal.com
Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of disorders
characterized by progressive atrophy of the frontal and temporal lobes of the brain. FTLD …

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

AS Chen-Plotkin, M Martinez-Lage… - Archives of …, 2011 - jamanetwork.com
Objective To assess the relative frequency of unique mutations and their associated
characteristics in 97 individuals with mutations in progranulin (GRN), an important cause of …

Microglial burden, activation and dystrophy patterns in frontotemporal lobar degeneration

IOC Woollacott, CE Toomey, C Strand… - Journal of …, 2020 - Springer
Background Microglial dysfunction is implicated in frontotemporal lobar degeneration
(FTLD). Although studies have reported excessive microglial activation or senescence …

Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration

PW Tipton, AB Deutschlaender, R Savica… - Neurology, 2022 - AAN Enterprises
Background and Objectives Familial frontotemporal lobar degeneration (f-FTLD) is a
phenotypically heterogeneous spectrum of neurodegenerative disorders most often caused …