Table 1:

Clinical and genetic findings

Case	Sex	Age at Onset (yr)	Family History	Initial Symptoms	First Suspected Diagnosis	CSF1R Mutation	MRI Delay (yr)
1	M	57	Yes	Cognitive/psychiatric	FTLD (genetic form)	c.2330G>A(p.Arg777Gln)	1
2	M	44	Yes	Cognitive	FTLD (genetic form)	c.2330G>A(p.Arg777Gln)	4
3	F	42	Yes	Parkinsonism	Corticobasal degeneration	c.2566T>C(p.Tyr856His)	3
4	M	28	Yes	Gait	CNS lesions related to celiac disease	c.2381T>C(p.Ile794Thr)	4
5	M	57	Yes	Speech	Undetermined leukoencephalopathy	c.2381T>C(p.Ile794Thr)	5
6	F	28	No	Gait/apraxia	Undetermined leukoencephalopathy	c.2381T>C(p.Ile794Thr)	0.5
7	F	31	No	Motor	PPMS	c.2342C>T(p.Ala781Val)	1.5
8	M	60	Yes	Cognitive/apraxia	Corticobasal degeneration	c.2525G>T(p.Gly842Val)^{^a}	1
9	F	47	Yes	Parkinsonism	Vascular leukoencephalopathy (inherited)	c.2522A>G(p.Tyr841Cys)^{^a}	1
10	F	60	Yes	Cognitive/parkinsonism	Vascular leukoencephalopathy (inherited)	c.2522A>G(p.Tyr841Cys)^{^a}	1
11	M	36	Yes	Cognitive	LCC	c.2534T>C(p.Leu845Pro)^{^a}	2
12	F	55	Yes	Psychiatric/speech	LCC	c.2534T>C(p.Leu845Pro)^{^a}	2
13	F	–	Yes	Asymptomatic	NA	c.2498C>A(p.Thr833Lys)^{^a}	49^{^b}
14	F	57	Yes	Cognitive	FTLD (genetic form)	c.2498C>A(p.Thr833Lys)^{^a}	1
15	F	33	Yes	Gait	NA	c.2498C>A(p.Thr833Lys)^{^a}	0.5
16	M	52	No	Cognitive/psychiatric	Vascular leukoencephalopathy (inherited)	c.2308G>C(p.Ala770Pro)	2

Note:—NA indicates not applicable (diagnosis already known in family member); PPMS, primary-progressive MS; LCC, leukoencephalopathy with calcifications and cysts.
↵a Mutation not previously described.
↵b Patient asymptomatic at the time of MRI. Each family is separated by dashed lines.