TABLE 2.

Splicing Mutations Associated With FTDP-17

Splicing Mutations	Exon Splicing	MT Binding	Phenotype	Cells	EM	Inclusion Body	Reference
Exon 10
ΔK280	Decreased 4R	Reduced	FTDP-17	N		NFT	84
N296H	Increased 4R	NA	CBD-like	N,G	PHF		85
S305N	Increased 4R	No change	CBD-like	N,G	TF	NFT	51
S305S	Increased 4R	NA	PSP-like	N,G	TF	NFT	22
E10+3	Increased 4R	No change	FTDP-17	N,G	TF	NFT	15
E10+11	Increased 4R	No change	FTDP-17	N		NFT	26
E10+12	Increased 4R	No change	FTDP-17	N,G	TF	NFT	80
E10+13	Increased 4R	No change	FTDP-17	N,G	TF	NFT	41
E10+14	Increased 4R	No change	FTDP-17, PSP-like	N,G	TF	NFT	41
E10+16	Increased 4R	No change	AD-, PiD, PSP, CBD-like, FTDP-17	N,G	TF	NFT	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.