Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)

Wszolek, Zbigniew K; Tsuboi, Yoshio; Ghetti, Bernardino; Pickering-Brown, Stuart; Baba, Yasuhiko; Cheshire, William P

doi:10.1186/1750-1172-1-30

Orphanet Journal of Rare Diseases

Table 2 Phenotypes of specific tau gene mutations seen in FTDP-17 patients.

From: Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)

	Exon
Clinical feature	1	9	11	12	13	10	Intron 10
Average age at onset, y
≤30				S352L		P301S
				G335V
31–40		L266V	S320F		G389R	delN296
						S305N
						G303V
41–50		G272V	K317M	E342V		N279K	+3	+11	+14
		K257T				P301L	+16
>50	R5H	I260V	L315R	V337M	R406W	del280K	+12	+13	+19
	R5L			Q336R	T427M	L284L	+29
				K369I		N296H
						S305S
						N296N
Average duration, y
≤5	R5H	L266V	L315R	S352L	G389R	del280K	+29
	R5L	K257T				delN296
						N296H
						S305N
						G303V
6–10		G272V I260V	K317M	E342V Q336R	T427M	N279K P301L	+11	+12
				K369I		S305S
				G335V		N296N
						L284L
						P301S
11–15			S320F	V337M			+3	+14	+16
>15					R406W
First sign
Parkinsonism	R5L		K317M			N279K	+3	+11
						P301L
						delN296
						S305S
						N296N
						G303V
Dementia	R5H	K257T	S320F	Q336R	R406W	L284L	+3	+12	+29
			L315R			delN296
Personality change		G272V	L315R	V337M	T427M	P301L	+12	+14	+16
		I260V		E342V		N296H	+19	+29
				K369I		S305S
				G335V		S305N
Parkinsonism
Early-prominent			K317M			N279K	+11
						delN296
						S305S
						N296N
						G303V
Late-prominent						P301S	+3	+12	+14
						N296H	+16	+29
Rare-minimal	R5L	G272V		S352L		P301L
						S305N
Dementia
Early-prominent		L266V	S320F	Q336R	R406W	delN296	+12	+29
		K257T	L315R	G335V	T427M	S305S
		I260V
Late-prominent		G272V		V337M		del280K	+3	+11	+13
				K369I		L284L
						P301L
						P301S
						S305N
Rare-minimal			K317M			N279K G303V
Personality change
Early-prominent		L266V	L315R	V337M	R406W	del280K	+12	+14	+16
		G272V		K369I	T427M	L284L	+19	+29
		I260V		G335V		P301L
		K257T				P301S
						S305S
						S305N
Other clinical features
Language s		G272V	S320F	Q336R	G389R	N279K	+14	+16	+29
difficultie		K257T	L315R		T427M	L284L
		I260V	K317M			N296H
						P301L
						S305S
						N296N
						G303V
Late mutism			L315R	V337M	R406W	N279K	+16	+29
					T427M	del280K
						N296H
						P301S
						S305N
Eye movement						N279K	+3
abnormalities						N296H
						P301S
						delN296
						S305S
						N296N
						G303V
Epilepsy				S352L		P301S
Myoclonus				V337M		N279K	+11
				S352L		P301S
Pyramidal signs						N279K	+3	+12
						P301S
						N296N
						G303V
						S305S
Amyotrophy			K317M			P301L N296N	+14

Back to article page

ISSN: 1750-1172

Contact us

Submission enquiries: Access here and click Contact Us
General enquiries: info@biomedcentral.com