TABLE 1.

Missense Mutations Associated With FTDP-17

Missense Mutation	Exon Splicing	MT Binding	Phenotype	Cells	EM	Inclusion Body	Reference
Exon 9
K257T	No change	Reduced	PiD-like	N		Picks bodies	90
I260V	Not studied	NA	NA	N			83
L266V	Decreased 4R (Decreased Ex 10 utilization)	Reduced	PiD-like	N			91
G272V	No change	Reduced	FTDP-17	N			41
Exon 10
N279K	Increased 4R (Increased Ex 10 utilization)	Variable	PSP-like	N,G	TF	NFT	20
ΔK280	Decreased 4R	Reduced	FTDP-17			NFT	84
L284L	Increased 4R	Normal	AD-like	N,G	TF	NFT, β-A	57
ΔN296	No change	Reduced	PSP-like	N			86
P301L	No change	Reduced	FTDP-17	N,G	TF	NFT, β-A	41
P301S	No change	Reduced	FTDP-17, CBD-like	N,G	TF	NFT	24
S305N	Increased 4R	No change	CBD-like	N,G	TF	NFT	51
Exon 11
L315R	No change	Reduced	PiD-like	N,G		Pick-like bodies	87
S320F	No change	Reduced	PiD-like	N		Pick-like bodies	88
Exon 12
Q336R	No change	Increased	PiD-like	N	TF,SF	Pick-like bodies	89
V337M	No change	Reduced	FTDP-17	N	PF,SF	NFT	13
Exon 13
G389R	No change	Reduced	PiD-like	N	TF,SF	Pick-like bodies	82
R406W	No change	Reduced	PSP-like	N	PHF,SF	NFT, Pick-like bodies	41

4R, Four microtubule binding repeat tau; PiD, Pick’s Disease; CBD, corticobasal degeneration; FTDP-17, frontotemporal dementia like parkinsonism-17; PSP, progressive supranuclear palsy; AD, Alzheimer disease; PHF, paired helical filaments; TF, twisted filaments; NFT, neurofibrillary tangles; SF, straight filaments; N, neuron; G, glial cells; NA, data not available.