Rick van Minkelen

TL;DR: Structural imaging and cognitive changes can be identified 5-10 years before expected onset of symptoms in asymptomatic adults at risk of genetic frontotemporal dementia, which could help to define biomarkers that can stage presymPTomatic disease and track disease progression.

TL;DR: To evaluate cerebrospinal fluid and serum neurofilament light chain levels in genetic frontotemporal dementia (FTD) as a potential biomarker in the presymptomatic stage and during the conversion into the symptomatic stage.

TL;DR: The results demonstrate that a genotype-phenotype correlation at the NF1 region 844–848 exists and will be valuable in the management and genetic counseling of a significant number of individuals.

TL;DR: Evidence of presymptomatic reduction in white matter integrity and grey matter volume in familial FTD is presented, with the largest declines in the uncinate fasciculus, genu corpus callosum, and frontotemporal, cingulate and insular cortex.

TL;DR: All identified SPRED1 mutations are reviewed and summarized molecular, clinical, and functional data are summarized and sixty‐three mutations and deletions are definitely pathogenic or most likely pathogenic, eight SPRED 1 mutations are probably benign rare variants, and 17 SPRed1 missense mutations are still unclassified and need further family and functional studies to help with the interpretation.