Table 4.

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

Gene	PGRN
Aminio acid change	R493X	T304LfsX58	C253X	A9D	T7A	G401X	E498DfsX12	L271LfsX10	V200GfsX18
Mutation type	Point	Insertion	Deletion	Point	Point	Point	Deletion	Deletion	Point
Genomic region	Exon 12	Exon 9	Exon 8	Exon 2	Exon 2	Exon 11	Exon 12	Exon 7	Intron 7
AAO (years)	44–62	57	60	46–59	50	55–69	NA	66	62
DD (years)	3–9	5	NA	4–7	NA	NA	NA	1–8	9
Parkinsonism	++	+	+	+	+	+	+	+++	+
Personality changes	+	+	++	+	+	++	+	++	+
Dementia	+	+	+	+	+	+	+	+	+
Language difficulties	++	+	−	+	−	+	+	+	−
Supranuclear gaze palsy	−	−	−	++	−	−	−	−	−
Apraxia	+	+	−	++	+	+	++	++	++
Pyramidal signs	−	+	−	−	−	−	−	−	−
Amyotrophy	−	−	−	+	−	−	−	−	−

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