Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis

G Pfeffer, G Lee, CS Pontifex, RD Fanganiello, A Peck… - Genes, 2022 - mdpi.com
In this work, we review clinical features and genetic diagnosis of diseases caused by
mutations in the gene encoding valosin-containing protein (VCP/p97), the functionally …

Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations

BF Boeve, AL Boxer, F Kumfor, Y Pijnenburg… - The Lancet …, 2022 - thelancet.com
Frontotemporal dementia comprises a group of clinical syndromes that are characterised by
progressive changes in behaviour, executive function, or language. The term frontotemporal …

Plasma neurofilament light for prediction of disease progression in familial frontotemporal lobar degeneration

JC Rojas, P Wang, AM Staffaroni, C Heller, Y Cobigo… - Neurology, 2021 - AAN Enterprises
Objective We tested the hypothesis that plasma neurofilament light chain (NfL) identifies
asymptomatic carriers of familial frontotemporal lobar degeneration (FTLD)–causing …

Proposed research criteria for prodromal behavioural variant frontotemporal dementia

MS Barker, RT Gottesman, M Manoochehri… - Brain, 2022 - academic.oup.com
At present, no research criteria exist for the diagnosis of prodromal behavioural variant
frontotemporal dementia (bvFTD), though early detection is of high research importance …

Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN …

M Huang, E Modeste, E Dammer, P Merino… - Acta neuropathologica …, 2020 - Springer
Heterozygous, loss-of-function mutations in the granulin gene (GRN) encoding progranulin
(PGRN) are a common cause of frontotemporal dementia (FTD). Homozygous GRN …

Temporal order of clinical and biomarker changes in familial frontotemporal dementia

AM Staffaroni, M Quintana, B Wendelberger… - Nature medicine, 2022 - nature.com
Unlike familial Alzheimer's disease, we have been unable to accurately predict symptom
onset in presymptomatic familial frontotemporal dementia (f-FTD) mutation carriers, which is …

Uncovering the distinct macro-scale anatomy of dysexecutive and behavioural degenerative diseases

N Corriveau-Lecavalier, LR Barnard, H Botha… - Brain, 2024 - academic.oup.com
There is a longstanding ambiguity regarding the clinical diagnosis of dementia syndromes
predominantly targeting executive functions versus behaviour and personality. This is due to …

Association of physical activity with neurofilament light chain trajectories in autosomal dominant frontotemporal lobar degeneration variant carriers

KB Casaletto, J Kornack, EW Paolillo, JC Rojas… - JAMA …, 2023 - jamanetwork.com
Importance Physical activity is associated with cognitive health, even in autosomal dominant
forms of dementia. Higher physical activity is associated with slowed cognitive and …

Genetic testing in dementia—utility and clinical strategies

CAM Koriath, J Kenny, NS Ryan, JD Rohrer… - Nature Reviews …, 2021 - nature.com
Techniques for clinical genetic testing in dementia disorders have advanced rapidly but
remain to be more widely implemented in practice. A positive genetic test offers a precise …

Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia

MO Mol, TH Wong, S Melhem, S Basu… - Neurology …, 2021 - AAN Enterprises
Objective Despite the strong genetic component of frontotemporal dementia (FTD), a
substantial proportion of patients remain genetically unresolved. We performed an in-depth …