A novel PSEN2 missense variant in a Japanese woman with hereditary Alzheimer's disease

Key Points

• To investigate a novel PSEN2 variant in a patient with hereditary Alzheimer's disease and assess the impact of monoclonal antibody therapy.
• Reported a case of a 51-year-old Japanese woman with PSEN2-associated hereditary Alzheimer's disease.
• Performed a molecular diagnosis identifying a novel missense variant in PSEN2.
• Administered intravenous monoclonal antibody therapy after the diagnosis and monitored using PET imaging.
• Detected intense Pittsburgh compound B accumulation in the brain before treatment.
• Observed a reduction in amyloid-β deposits in the cerebral cortex after 6 months of therapy.
• Findings suggest a beneficial effect of monoclonal antibody therapy in patients with symptomatic hereditary Alzheimer's disease.