GRN - Loss of function and MAPT - Toxic gain function
Frontotemporal dementia
Genotype
GRN and MAPT
Mechanism
GRN - Loss of function and MAPT - Toxic gain function
Phenotype
Social Isolation, Hyperactivity,Anxiety, Repetitive/compulsive Behavior, Spatial Learning
Biomarker
p Tau, Total Tau, PSD 95, GFAP
Gene Expression Markers
GRN, MAPT, GSK3B, SYP, TNF, IL1B, GFAP
Physiology Changes
EEG - Long Term potentiation amplitude (LTP) and EPSP slope
Histology Grading Endpoint
Neuronal shrinkage and synaptic degeneration