Table 3.

The MAPT mutations in FTDP-17 and their characteristic clinical phenotype.

Gene	MAPT
Amino acid change	N279K	delN296	S305S	N296N	G303V	P301S	N296H	K317M	P301L	S305N	G272V
Mutation type	Point	Delision	Silent	Silent	Point	Point	Point	Point	Point	Point	Point
Genomic region	Exon 10	Exon 10	Exon 10	Exon 10	Exon 10	Exon 10	Exon 10	Exon 11	Exon 10	Exon 10	Exon 9
AAO (years)	41–50	31–40	>50	>50	31–40	≤30	>50	41–50	41–50	31–40	41–50
DD (years)	6–10	≤5	6–10	6–10	≤5	6–10	≤5	6–10	6–10	≤5	6–10
Early Parkinsonism	+++	+++	+++	+++	+++	−	−	+++	−	−	−
Late Parkinsonism	−	−	−	−	−	+++	+++	−	−	−	−
Rare Parkinsonism	−	−	−	−	−	−	−	−	+	+	+
Personality changes	−	−	+++	−	−	+++	++	−	+++	+++	+++
Dementia	+	+++	+++	−	+	+++	−	+	+++	+++	+++
Language difficulties	+	−	+	+	+	+	++	+	+	+	+
Supranuclear gaze palsy	+	+	+	+	+	+	+	+	−	+	−
Apraxia	+	−	−	+	−	+	−	+	−	+	−
Pyramidal signs	+	−	+	+	+	+	−	−	−	+	−
Amyotrophy	−	−	−	+	−	−	−	+	+	−	−

AAO = age at onset; DD = disease duration; (−) = not present/not assessed; (+) = rare; (++) = present in some cases; (+++) = frequent