Table 2.

The clinical characteristics and genetic analysis of five probands carrying mutations in APP, PSEN1, and PSEN2.

Proband no	Sex	Family history	Age at onset (y)	Age at present (y)	Cognitive symptoms	Behavioral and psychiatric symptoms	Additional features	Neuroimaging features	Gene	Variants	APOE
1	M	Yes	52	53	Memory decline	-	Involuntary tremors	Enlarged ventricles and sulci, diffuse amyloid plaque deposition in the cerebral cortex	APP	c.2061A>C p.K687N	E3/E4
2	M	Yes	32	37	Progressive memory decline, disorientation, executive dysfunction	Apathetic, social disinhibition	Seizures	Bilateral temporal atrophy and ventricular enlargement	PSEN1	c.428T>C p.I143T	E3/E4
3	M	No	43	45	Memory decline, disorientation, executive dysfunction	Paranoid, apathetic, and irritable	-	Temporal atrophy and ventricular enlargement, prominent amyloid deposition in the cerebral cortex	PSEN1	c.702_704dup p.L235dup	E3/E3
4	F	Yes	50	54	Progressive memory decline, language disability	Apathic	Action tremors	Atrophy of cerebral cortex, predominantly in temporoparietal lobe	PSEN2	c.505C>A p.H169N	E3/E3
5	F	No	47	49	Memory disturbance	Apathetic, and irritable	-	Mild atrophy of cerebral cortex, ventriculomegaly with periventricular signal abnormality	PSEN2	c.640G>T p.V214L	E3/E3

F, female; M, Male; MRI, Magnetic resonance imaging; APOE, Apolipoprotein E genotype.