Table 1

Detection of PSEN1 and APP mutations among 29 families with autosomal dominant early onset Alzheimer’s disease

Family	AOO (years)	Affected subjects (n)	*APP*	*PSEN1*
*Novel mutations at codons previously reported mutant in Alzheimer’s disease.
†Cosegregation with Alzheimer’s disease demonstrated.
‡Novel mutations at codons which had not previously been reported mutant in Alzheimer’s disease.
AOO, age of onset (range in years); APP, Genbank accession number X06989; PSEN1, Genbank accession number L42110; WT, wild type.
ALZ 184	53 to 58	3	WT	c.315T→A; F105I*
ALZ 157	30 to 33	4	WT	c.347C→A; T116N
ANG 008	40 to 47	4	WT	c.347C→T; T116I*
ALZ 231	43 to 48	4	WT	c.360A→C; Q120N†
ROU 001	34 to 35	3	WT	c.428T→C; I143W
ALZ 175	45 to 50	5	WT	c.428T→A; I143N*
ALZ 148	34 to 40	5	WT	c.459C→G; L153V†
ALZ 180	39 to 44	4	WT	c.459C→G L153V†
ALZ 156	36 to 42	4	WT	c.529T→C; F177L†
ALZ 219	32 to 34	5	WT	c.617G→A; G206N†
KRI 001	30 to 35	15	WT	c.616G→A; G206S†*
ALZ 178	37 to 45	5	WT	c.640C→T; H214Y‡
ALZ 163	37 to 46	5	WT	c.698T→C; M233T
ALZ.202	38 to 40	3	WT	c.698T→C; M233T
ALZ 183	47 to 51	4	WT	c.791C→T; P264L†
ALZ 150	43 to 47	4	WT	c.839A→G; E280G
ALZ 179	52 to 58	3	WT	c.953A→G; E318G
LEF 063	45 to 51	3	WT	c.953A→G; E318G
KER 061	49 to 59	3	WT	c.953A→G; E318G
POI 060	37 to 58	5	WT	c.1157T→C; F386S†‡
ALZ 174	42 to 45	3	WT	c.1171G→T; V391F‡
ALZ 154	39 to 47	5	WT	c.1174C→G; L392V†
ALZ 147	41 to 48	6	WT	c.1174C→G; L392V†
ALZ 161	38 to 42	3	WT	c.1271T→A; L424H‡
ALZ 191	35 to 41	3	c.2084C→T; T714I	WT
ALZ 196	50 to 60	3	c.2092G→A; V717I	WT
ALZ 166	42 to 56	4	c.2092G→A; V717I	WT
ALZ 170	45 to 57	6	c.2092G→A; V717I	WT
ALZ 221	40 to 54	3	c.2092G→A; V717I	WT