Presymptomatic and early pathological features of MAPT-associated frontotemporal lobar degeneration

Table 1 Demographic and clinical features of the cohort

Case	MAPT variant	MAPT isoform	Sex	Age onset (yrs)	Age death (yrs)	Disease duration (yrs)	Group	FTLD-CDR	Clinical diagnosis	PMI (hrs)	Brain weight (g)	Co-pathology
1	L315R	3R + 4R	F		68		Early-stage	0		6	1188	Age-related tau (B2)
2	P301L	4R	F		59		Early-stage	0.5	MCBMI^a	6	1079
3	G272V	3R	M	43	45	2	Early-stage	1	bvFTD	6	1495
4	P301L	4R	M	49	52	3	Intermediate-stage	2	bvFTD	12	1115
5	P301L	4R	M	53	55	2	Intermediate-stage	2	bvFTD	4	1100
6	G272V	3R	F	47	54	7	Intermediate-stage	2	bvFTD	8	1027
7	L315R	3R + 4R	F	54	63	9	End-stage	3	bvFTD	4	758
8	L315R	3R + 4R	M	52	57	5	End-stage	3	bvFTD	8	1111
9	P301L	4R	M	58	66	8	End-stage	3	bvFTD	5	1011
10	P301L	4R	M	39	46	7	End-stage	3	bvFTD	6	1065
11	P301L	4R	F	56	66	10	End-stage	3	bvFTD	7	707
12	P301L	4R	M	51	60	9	End-stage	3	bvFTD	5	887
13	P301L	4R	F	50	64	14	End-stage	3	bvFTD	8	652
14	P301L	4R	M	52	64	12	End-stage	3	bvFTD	6	1029
15	P301L	4R	M	53	57	4	End-stage	3	bvFTD	5	1197	Vascular (infarcts)^b
16	P301L	4R	M	57	65	8	End-stage	3	bvFTD	6	1002
17	G272V	3R	F	45	54	9	End-stage	3	bvFTD	6	791
18	G272V	3R	F	47	67	20	End-stage	3	bvFTD	4	757
19	G272V	3R	M	41	49	8	End-stage	3	bvFTD	5	1188	Beta-amyloid (A1, C0)
20	G272V	3R	M	42	51	9	End-stage	3	bvFTD	4	962	Vascular (ischemic scars)^c
21	G272V	3R	M	42	49	7	End-stage	3	bvFTD	5	1105

Legend: bvFTD = behavioural variant frontotemporal dementia; FTLD-CDR = global Clinical Dementia Rating plus FTLD NACC; MCBMI = mild cognitive and/or behavioural and/or motor impairment; PMI = postmortem interval
^aOnly mild symptoms were present immediately before death, likely consistent with an MCBMI diagnosis. As the patient was not seen clinically during that period, the diagnosis could not be formally ascertained, and the exact age of symptom onset is uncertain (between 50–55 years of age)
^bCase 15 showed two small old cortical infarctions in the motor cortex and one small recent cortical infarction in the occipital cortex
^cCase 20 had small ischemic scars in the occipital cortex

ISSN: 2051-5960