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 …
mutations in the gene encoding valosin-containing protein (VCP/p97), the functionally …
Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations
Frontotemporal dementia comprises a group of clinical syndromes that are characterised by
progressive changes in behaviour, executive function, or language. The term frontotemporal …
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 …
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 …
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 …
Heterozygous, loss-of-function mutations in the granulin gene (GRN) encoding progranulin
(PGRN) are a common cause of frontotemporal dementia (FTD). Homozygous GRN …
(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 …
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 …
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 …
forms of dementia. Higher physical activity is associated with slowed cognitive and …
Genetic testing in dementia—utility and clinical strategies
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 …
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 …
substantial proportion of patients remain genetically unresolved. We performed an in-depth …