Harro Seelaar

TL;DR: Using whole exome sequencing, a Dutch cohort of 68 patients with EOAD was screened for rare variants in Mendelian Alzheimer's disease, frontotemporal dementia, and prion disease genes and identified 3 PSEN1 and 2 PSEN2 variants.

TL;DR: In this paper, the authors compared regional [18F]flortaucipir binding potential (BPND) derived from a 130-minute dynamic [18 F]FLORTACPIR PET scan in 9 (pre)symptomatic MAPT mutation carriers (4 with P301L [1 symptomatic], 2 with R406W [1 symptomomatic], 1 presymptomatic L315R, 1 presyptomatic S320F, and 1 symptomatic G272V carrier) with 30 cognitively normal controls and 52 patients with Alzheimer disease.

TL;DR: It was showed that FTD patients with episodic memory impairment had lower perfusion in the right temporal lobe compared withFTD patients without memory impairment, and this region correlated with worse memory performance on the Clinical Dementia Rating scale in FTD Patients.

TL;DR: The results show that psychiatric symptoms of FTLD are linked to subcortical pathology burden in the hippocampus, and hallucinations are link to a higher burden of TDP-43 in the granular layer of the hippocampus.

TL;DR: In this article, the authors performed an in-depth study of a family with an autosomal dominant form of frontotemporal dementia (FTD) to investigate the underlying genetic cause.