Table 3.

Disease-causing variants of identified monogenic dementias (except C9ORF72)

Patient ID	Form	AOO	Sex	Symptoms	Gene	Variant ID	Zygosity	Clinical significance	ACMG classification	MAF (non-neuro)	Patients	Controls	Reference
P59	F	40	f	Severe short-term memory impairment; serious language impairment, epileptic seizure, myoclonus-like jerks, hypokinesis	APP	p.V717F c.2149G > T rs63750264	het	P	P	-	1/120	0/137	[14]
P11	S	60	f	Behavioral changes; speech deterioration; severe aphasia; rigidity; sever dysphagia	GRN	c.708 + 1G > A rs63749817	het	P/LP	P	-	1/120	0/137	[15]
P117	S	49	m	Behavioral changes, aphasia	GRN	p.Ser226TrpfsTer28 c.675_676delCA rs63751085	het	P	P	-	1/120	0/137	[16]
P10	S	58	f	Aphasia, apathy, severe cognitive impairment, echolalia	GRN	c.264 + 2 T > C	het	D	LP	-	2/120	0/137	[15]
P46	F	59	m	Aphasia, apathy, severe cognitive impairment
P27	F	52	f	Short-term memory impairment, anxiety, amnestic, and executive disabilities	PSEN1	p.V89L c.265G > C	het	D	LP	-	1/120	0/137	[17]
P31	S	39	f	Memory impairment, disorientation, hallucination, psychotic sessions, conversion, mixed dissociative disorder, myoclonus, impaired speech, and apraxia	PSEN1	p.G206S c.616G > A rs63750569	het	D	LP	-	1/120	0/137	[44]
P111	F	45	f	Spastic paraparesis, dysarthria, dysphagia, severe cognitive decline, and progressive loss of speech	PSEN1	p.L166R c.497 T > G rs63750265	het	D	LP	-	1/120	0/137	[27]
P56	S	52	m	Memory impairment, progressive dysphagia, apraxia, tetrapyramidal signs, spasticity, and urinary incontinence	CSF1R	c.2646_2654 + 6del	het	D	P	-	1/54	0/137	-
P112	F	29	m	learning difficulty, concentration problems, gait disturbance, speech deterioration	PRNP	7- OPRI	het	D	P	< 0.01	1/120	0/137	[22]
P14	S	51	m	Behavioral changes, memory deficit, mixed aphasia, apathy, epileptic seizures, rigor, resting tremor, urinary incontinence	TREM2	p.R47C c.139C > T rs753325601	comp. het	D	VUS	< 0.01	1/54	0/137	[21]
						p.A105Rfs*84 c.313delG rs386834141		P	P	< 0.01	1/54	0/137	[20]

From our biobanks, 55 healthy subjects and 82 patients without any neurodegenerative symptoms were selected as controls. F, familial; S, sporadic; AOO, age of onset; f, female; m, male; het., heterozygous; comp. het., compound heterozygous; D, damaging; P, pathogenic; LP, likely pathogenic; VUS, variants with uncertain significance; MAF, minor allele frequency