Corticobasal Syndrome in a Family with Early‐Onset Alzheimer's Disease Linked to a Presenilin‐1 Gene Mutation

Background Alzheimer's disease ( AD ) is the second‐most frequent cause underlying corticobasal syndrome ( CBS ). However, a reliable diagnosis using clinical, neuropsychological, or neuroimaging approaches has not yet been achieved. Methods Clinical, neuropsychological, imaging, and neuropathology studies were undertaken in a large Spanish family with early‐onset familial AD ( EOFAD ) carrying a Met233Leu mutation linked to presenilin‐1 gene ( PSEN ‐1). Results Two of three examined members of this family presented with the usual amnestic pattern. At the age of 47 years, a third family member, in whom pathology was later confirmed, developed prominent CBS combined with severe neuropsychiatric and behavioral disturbances resembling those often found in EOFAD . Conclusion Although CBS in EOFAD appears to be rare, demonstration of a linkage to PSEN ‐1 gene mutations may permit in vivo diagnosis.