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