Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations.
Frontal behavioral changes may be the presenting features of single-photon emission tomography (presenilin-1 [PS-1]) mutations, the most common cause of familial Alzheimer's disease (AD). The authors describe a PS-1 (M233L) mutation with the features of frontotemporal dementia (FTD) and review the literature. PS-1 mutations may produce FTD-like phenotypes with the neuropathology of AD. Some PS-1 mutations have additional Pick's bodies, a neuropathological marker of FTD, and a report of a PS-1 (G183V) mutation found Pick's bodies without amyloid plaques. The patient and the literature suggest that PS-1 mutations result in an overlapping continuum of the clinical and neuropathological features of AD and FTD. In PS-1 mutations, the expression of AD or FTD may depend on the degree of loss of function of the PS-1 gene and the resultant tau pathophysiology.
Mendez
Mario F
MF
Neurobehavior Unit, VA Greater Los Angeles Healthcare, CA 90073, USA. mmendez@ucla.edu
McMurtray
Aaron
A
D000328:Adult; D003704:Dementia / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D009483:Neuropsychological Tests; D010641:Phenotype; D053764:Presenilin-1 / Q000235:genetics*
D053764:Presenilin-1