Table 1: Detected mutation and their prediction of pathogenicity and clinical findings.

Mutation Prediction of pathogenicity Age onset Initial symptom Previous publications and/or molgen database
PSEN1 p.H163R Pathogenic variant 43 Unknown Yes
PSEN1 p.H163Y Pathogenic variant 54 Memory deficit Yes
PSEN1 p.L173F Pathogenic variant 44 Unknown Yes
PSEN1 p.V193G Uncertain significance 53 Obsessive behaviour, paranoid thoughts No (ExAc browser)
PSEN1 p.I213F Pathogenic variant 34 Memory deficit Yes
PSEN1 p.E280A Pathogenic variant 45 Memory deficit Yes
PSEN1 p.A431V Pathogenic variant 61 Unknown Yes
PSEN2 p.T430M Pathogenic variant 52 Memory deficit Yes
PSEN2 c.142-7delC Uncertain significance 54 Word finding difficulty No (Novel variant)
PSEN2 p.G34S Uncertain significance 55 Memory deficit Yes
PSEN2 p.R62C Uncertain significance 54 Unknown Yes