Table 3.

Familial AD Causative Mutations for CAA

Gene	Mutation∗	CAA†	Notes‡	References§
APP	LysMet670/671AsnLeu	Yes	Mouse model, CAA at 12–19 months	106
	Ala673Val	Yes		107
	Asp678His	Yes	Also present with cerebral microvasculopathy (23931937)	108
	Ala692Gly	Yes		109
	Glu693Gly	Yes	Mouse model shows no CAA	106
	Glu693Lys	Yes		110
	Glu693Gln	Yes	Mouse model, CAA at 12–22 months	111
	Asp694Asn	Yes	Mouse model: APPSwDI (Swedish Lys760Asn/Met671Leu, Dutch Glu693Gln and Iowa Asp694Asn), considered to be the optimal CAA model	112
	Ala713Thr	Yes	WM changes, cerebral microangiopathy and CAA‖	113,154
	Thr714Ile	Yes	Transgenic APP695 mouse harboring Lys670Asn, Met671Leu, and Thr714Ile, develops CAA	114
	Ile716Phe	Yes		106
	Val717Phe	Yes	Mouse model shows no CAA	115
	Val717Gly	Yes		116
	Val717Ile	Yes	Mouse model, CAA at 15 months	117
	Val717Leu	Yes		118
PSEN1	Ile83_MetM84del	Yes	(DelIleMet, ΔIle83/Met84, ΔIle83/ΔMet84)	119
	Met84Thr	Yes		120
	Val89Leu (G>T)	Yes		121
	Leu113_Ile114insThr	Yes	(Intron4, p.113+1delGly, splice5, InsThrAlaCys)	122
	Leu113Glns	Yes		123
	Thr116Asn	Yes		124
	Pro117Leu	Yes		56
	Glu120Gly	Yes		125
	Asn135Tyr	Yes		126
	Met139Val	Yes		127
	Ile143Met	Yes	CAA prominent in meningeal vessels	47
	Ile143Val	Yes		128
	Leu174Met	Yes		129
	Glu184Asp	Yes		130
	Ile202Phe	Yes		131
	Gly217Asp	Yes		132
	Leu219Pro	Yes		133
	Aal260Gly¶	?		134
	Val261Phe	Yes		135
	Gly266Ser	Yes		136
	Pro267Ala	Yes		137
	Leu268Pro	Yes		138
	Arg269His	Yes		139
	Leu271Val	Yes		140
	Val272Ala	Yes		141
	Arg278Ile	Yes		127
	Glu280Ala	Yes	Paisa mutation	142
	GluE280Gly	Yes		143
	Leu282Val	Yes		144
	Pro284Leu	Yes		145
	Leu286Pro	Yes		138
	Ser290Cys	Yes	Thr291_Ser319del (ΔAla9, Δ9)	146
	Gly378Glu	Yes		123
	Leu392Val	Yes		145
	Asn405Ser	Yes		147
	Gly417Ser	Yes		148
	Ala431Val	Yes		145
	Thr440del	Yes		149
PSEN2	Aal85Val	Yes		150
	Lys115Glufs	Yes		151
	Asn141Ile	Yes	Volga German mutation	152
	Leu221Thr	Yes		153

AD, Alzheimer disease; APP, amyloid precursor protein; CAA, cerebral amyloid angiopathy; PSEN1, presenilin 1; PSEN2, presenilin 2; WM, white matter.

^∗Genotypes of different mutations per original references derived from the Alzforum Database (http://www.alzforum.org/mutations, last accessed January 15, 2021).

^†Presence of variable degrees of CAA predominantly in cortical regions.

^‡Presence or absence of CAA in various transgenic mouse models and features noted in case reports.

^§References include citations of four abstracts.

^¶Magnetic resonance imaging positive for microbleeds suggests likely CAA (compare Figure 1B, images 5 and 6).

^‖First case in Argentina with APP Ala171Thr mutation showing marked vascular pathology.¹⁵⁴