Table 2.

The Chinese patients reported in the literature with MAPT mutations

case number	MAPT mutation	Clinical phenotype	AAO (years)	Family history	Reference
1	R5H	PPA variant of FTD, CBD, ALS	60	Yes	Lin et al10
2	L48V	PSP	59	No	Shi et al8
3	D177V	PNFA	57	No	Tang et al7
4	N279K	Predominant parkinsonism	40–50	Yes	Yang et al11
5	N279K	Early parkinsonism, bvFTD developed later	48	Yes	Wu et al12
6	H299Y	Semantic dementia	50	No	Che et al9
7	P301L	bvFTD or PNFA	53–59	Yes	Shi et al8
8	P301L	bvFTD	49	Yes	Current
9	G389R	bvFTD	27	Yes	Sun et al13
10	P513 A	PNFA	52	Yes	Tang et al7

Abbreviations: AAO, age at onset; ALS, amyotrophic lateral sclerosis; bvFTD, behavioral variant frontotemporal dementia; CBD, corticobasal degeneration; FTD, frontotemporal dementia; PNFA, progressive nonfluent aphasia; PPA, primary progressive aphasia; PSP, progressive supranuclear palsy.