Table 1

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

FamilyAOO (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 18453 to 583WTc.315T→A; F105I*
ALZ 15730 to 334WTc.347C→A; T116N
ANG 00840 to 474WTc.347C→T; T116I*
ALZ 23143 to 484WTc.360A→C; Q120N†
ROU 00134 to 353WTc.428T→C; I143W
ALZ 17545 to 505WTc.428T→A; I143N*
ALZ 14834 to 405WTc.459C→G; L153V†
ALZ 18039 to 444WTc.459C→G L153V†
ALZ 15636 to 424WTc.529T→C; F177L†
ALZ 21932 to 345WTc.617G→A; G206N†
KRI 00130 to 3515WTc.616G→A; G206S†*
ALZ 17837 to 455WTc.640C→T; H214Y‡
ALZ 16337 to 465WTc.698T→C; M233T
ALZ.20238 to 403WTc.698T→C; M233T
ALZ 18347 to 514WTc.791C→T; P264L†
ALZ 15043 to 474WTc.839A→G; E280G
ALZ 17952 to 583WTc.953A→G; E318G
LEF 06345 to 513WTc.953A→G; E318G
KER 06149 to 593WTc.953A→G; E318G
POI 06037 to 585WTc.1157T→C; F386S†‡
ALZ 17442 to 453WTc.1171G→T; V391F‡
ALZ 15439 to 475WTc.1174C→G; L392V†
ALZ 14741 to 486WTc.1174C→G; L392V†
ALZ 16138 to 423WTc.1271T→A; L424H‡
ALZ 19135 to 413c.2084C→T; T714IWT
ALZ 19650 to 603c.2092G→A; V717IWT
ALZ 16642 to 564c.2092G→A; V717IWT
ALZ 17045 to 576c.2092G→A; V717IWT
ALZ 22140 to 543c.2092G→A; V717IWT