Table 3.

Comparisons of PSEN1 mutations, which could be associated with FTD-like phenotypes

Mutation	L113P	G183V	L226F	M233L	R352ins
Disease phenotype	FTD-like dementia	Pick’s disease	EOAD and FTD-like phenotypes	FTD-like dementia	FTD, but pathogenic nature unclear
Age at onset	38–52 years	52 years	33–37 years	39 years	Unknown
Family history	Positive	Positive	Positive or de novo	Unknown, no affected family members found	Unknown
Symptoms	Personality- and behavioral changes, spatial orientation	Personality changes: apathy, overeating, or frontal disinhibition	Behavioral changes; nonfluent aphasia; cognitive decline; Parkinsonism; rapid progress to death	Behavioral changes: became detached and disengaged in daily activities, impairment in communication, overeating, became paranoid	FTD
Neuroimaging	CT: frontotemporal atrophy SPECT: hypoperfusion in the frontal lobes	Severe atrophy in the frontotemporal lobes Pick bodies and Tau-positive inclusions, without Aβ deposits	Frontal- and cortical atrophy FDG-PET: cortical hypometabolism especially in bilateral parietal regions	PET: hypoperfusion and hypometabolism in the posterior parietal areas, and in prefrontal, parietal, and temporal cortex, respectively	Ubiquitin-positive but Tau-negative form of FTD

Abbreviations: FTD, frontemporal dementia; EOAD, early onset Alzheimer’s disease; CT, computed tomography; SPECT, Single-photon emission computed tomography; FDG-PET, Single-photon emission computed tomography.