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Biomarkers sensitive to a longer, ‘compensated’ presymptomatic phase of neurodegeneration are needed for preventative therapy development
MRI studies have reported structural1 and functional2 changes in asymptomatic carriers of highly penetrant genetic mutations associated with frontotemporal dementia (FTD) and the clinicopathologically related neurodegenerative disorder amyotrophic lateral sclerosis (ALS). The interpretation of data from cross-sectional studies is hampered by the varying age of the participants at the time of testing and the penetrance of the genotype, with inconsistent approaches to statistical modelling.3 In this issue, Feis and colleagues applied a combined structural and functional MRI protocol longitudinally to a cohort of 55 asymptomatic carriers of genetic mutations (GRN, C9orf72 or MAPT) associated with FTD.4 Significant MRI changes emerged in the months prior to symptom onset in the small subgroup of converters arising during the study period.
A criticism of the study (acknowledged in the discussion) is that a behavioural variant frontotemporal dementia (bvFTD) classification model was applied to a heterogeneous group in which C9orf72 hexanucleotide expansion carriers …
Contributors MRT is the sole contributor.
Funding MRT receives funding from the Motor Neurone Disease Association.
Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Commissioned; internally peer reviewed.