Albert C. Ludolph

TL;DR: It is concluded that haploinsufficiency of TBK1 causes ALS and fronto-temporal dementia.

TL;DR: A protein complementation assay quantifying TDP-43 oligomerization in living neurons shows microvesicular and bidirectional synaptic transmission of TDP -43 and T DP-43 seeding activity in human ALS postmortem brain tissue.

TL;DR: In a new screening strategy, gene-burden analyses trained with established ALS genes are performed and a significant association between loss-of-function (LOF) NEK1 variants and FALS risk is identified.

TL;DR: Experiments using patient-derived cell lines suggest haploinsufficiency as the molecular genetic mechanism for classical ALS, which underlines the relevance of intracellular transport processes for ALS, and is important for clinico-genetic diagnosis and counselling.

TL;DR: The circulating monocytes are found to be deregulated in ALS regarding subtype constitution, function and gene expression and application of human immunoglobulins or fusion proteins containing only the human Fc, but not the Fab antibody fragment increased CNS invasion of peripheral monocytes and delayed the disease onset.