Background and Objectives Familial frontotemporal lobar degeneration (f-FTLD) is a
phenotypically heterogeneous spectrum of neurodegenerative disorders most often caused …

Genetic mutations causative of frontotemporal lobar degeneration (FTLD) are highly
predictive of a specific proteinopathy, but there exists substantial inter-individual variability in …

Background Variants in the valosin-containing protein (VCP) gene were identified as one of
the causes for inclusion body myopathy associated with Paget disease of the bone and …

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are recognized as
part of a disease continuum (FTD-ALS spectrum), in which the most common genetic cause …

The pathophysiological mechanisms driving disease progression of frontotemporal lobar
degeneration (FTLD) and corresponding biomarkers are not fully understood. We leveraged …

Background: Frontotemporal lobar degeneration (FTLD) is a leading cause of dementia in
individuals aged< 65 years. Several challenges to conducting in-person evaluations in …

We assessed white matter (WM) integrity in MAPT mutation carriers (16 asymptomatic, 5
symptomatic) compared to 31 non-carrier family controls using diffusion tensor imaging …

Methods We ascertained all FTD (n= 13) and ALS patients (n= 4) with the I383V variant
(NM_007375. 3: c. 1147A> G, p. Ile383Val) in TARDBP from three university medical centres …

RESUMO A “demência frontotemporal”(DFT) é uma síndrome clínica, cujo denominador
comum é o acometimento focal dos lobos frontais e/ou temporais. A DFT tem três fenótipos …

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are part of the same
pathophysiological spectrum and have common genetic and cerebrospinal fluid (CSF) …