Early-onset Alzheimer’s disease with PSEN1 G206D mutation presenting with amnesia at an onset age of 29 years old

Key Points

• The case investigates early-onset Alzheimer’s disease associated with the PSEN1 G206D mutation in a 29-year-old woman.
• Clinical observation of cognitive decline and behavioral symptoms
• MRI imaging to assess cerebral atrophy
• Amyloid PET to evaluate amyloid accumulation
• CSF analysis for Aβ42/40 and p-tau181 levels
• Genetic testing for PSEN1 mutation
• Diagnosis of Alzheimer’s disease at age 36 following gradual memory loss starting at age 29.
• MRI showed atrophy concentrated in the parietal lobe and posterior cingulate.
• Amyloid PET indicated extensive amyloid accumulation.
• CSF analysis revealed reduced Aβ42/40 and elevated p-tau181 levels.
• A known heterozygous mutation in PSEN1 was detected, supporting the diagnosis.