The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review

Figures & data

Figure 1 Pedigree of the family. Filled symbols, affected subjects; open symbols, unaffected; a diagonal line through a symbol, deceased; short arrow, proband; half filled symbols, mutation carrier; circles, female; squares, male. DNA available in IV2, IV3, IV4, V5, V6, V7, and V8. The proband was IV2 (arrow), a 51-year-old female with the MAPT P301L mutation presenting as bvFTD clinically. One sibling (IV4) and two children of the patient (V6 and V8) were healthy mutation carriers with the same mutation.

Abbreviation: bvFTD, behavioral variant frontotemporal dementia.

Table 1 The patient’s performance on MES scale

item	MES items	Patient’s score/highest score possible
Total		29/100
Memory	Instant recall	4/30
	Short delayed recall	0/10
	Long delayed recall	0/10
Executive function	Category fluency test	6/10
	Sequential movement tasks	9/20
	Conflicting instructions task	4/10
	Inhibitory control test (Go/no-go)	6/10

Abbreviation: MES, Memory and Executive Screening scale.

Figure 2 The neuroimaging of the proband and her sibling. For the proband, the T1-weighted axial MRI scan showed bilateral asymmetry of frontotemporal atrophy, more significant on the left (A). The predominantly frontotemporal hypoperfusion and hypometabolism were observed on ASL-MRI (B) and FDG-PET (C), respectively, in the proband. FDG-PET studies in her sibling (IV4, mutation carrier, indexed in Figure 1) revealed no significant abnormalities on visual inspection (D).

Abbreviations: ASL, arterial spin-labeled; FDG-PET, fluorodeoxyglucose positron emission tomography; MRI, magnetic resonance imaging.

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 al^Citation10
2	L48V	PSP	59	No	Shi et al^Citation8
3	D177V	PNFA	57	No	Tang et al^Citation7
4	N279K	Predominant parkinsonism	40–50	Yes	Yang et al^Citation11
5	N279K	Early parkinsonism, bvFTD developed later	48	Yes	Wu et al^Citation12
6	H299Y	Semantic dementia	50	No	Che et al^Citation9
7	P301L	bvFTD or PNFA	53–59	Yes	Shi et al^Citation8
8	P301L	bvFTD	49	Yes	Current
9	G389R	bvFTD	27	Yes	Sun et al^Citation13
10	P513 A	PNFA	52	Yes	Tang et al^Citation7

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.

Table S1 MAPT primers

Primers (exons)	Forward (5′-3′)	Reverse (5′-3′)	Product size (bp)
1	GGCTCCTCTCTCTCTTCACC	TCCAAAGTGCTGGGATTACA	441
2	GTTTCCACAGGGAGCGATT	CAAAGCACCGAAGGAGTGAG	330
3	CGCAAGAAGCAAAGGTGAG	CCCACAGGAGGATAAACACG	265
4	TCATTTGCTGACACATACACCA	GCCAACCTTTGATAAGAACCA	235
5	CCACTGCGTATCTCCACACA	GAAGGAGCGAAGAAGCTCAA	803
6	CCACCAGACCCAACTAAACAA	GAACCTGCCAACTGCTCTTC	390
7	GCAGGAGAATGGCGTGAAC	GCAAACCACAGCAGAGCAG	570
8	GGCTGGTGTTGACTCTTGGT	AGGGAGGCTGAGGTAGGAGA	524
9	GCTTCACTCCCTTCCTTCCT	CACACCTCCATGCACAGTC	423
10	CGCATGTCACTCATCGAAAG	ACGCACTCACACCACTTCCT	254
11	TGCCTTTCCTCTTCTCTCTCC	CTCACCTTCCACAGGGCTAC	140
12	AAGTCCACAGAACCACAGAAGA	AGCATCCAACCCACCCTAC	199
13	TCTCTGGCACTTCATCTCACC	TCTCATTCTCTCCTCTCCACAA	307

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