A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy.
Mutations in AbetaPP cause deposition of Abeta amyloid fibrils in brain parenchyma and cerebral vessels, resulting in Alzheimer's disease (AD) and/or cerebral amyloid angiopathy (CAA). We report a novel mutation (L705V) within the Abeta sequence of AbetaPP in a family with autosomal dominant, recurrent intracerebral hemorrhages. Pathological examination disclosed severe CAA, without parenchymal amyloid plaques or neurofibrillary tangles. This variant highlights the vascular tropism of mutated Abeta, resulting in CAA instead of the pathological hallmarks of AD.
Obici
Laura
L
Amyloid Center, Biotechnology Research Laboratories, IRCCS Policlinico San Matteo, Pavia, Italy.
Demarchi
Andrea
A
de Rosa
Giulia
G
Bellotti
Vittorio
V
Marciano
Sabrina
S
Donadei
Simona
S
Arbustini
Eloisa
E
Palladini
Giovanni
G
Diegoli
Marta
M
Genovese
Egidio
E
Ferrari
Giancarlo
G
Coverlizza
Sergio
S
Merlini
Giampaolo
G
D016229:Amyloid beta-Peptides / Q000378:metabolism; D016564:Amyloid beta-Protein Precursor / Q000235:genetics* / Q000378:metabolism; D015152:Blotting, Northern / Q000379:methods; D001921:Brain / Q000473:pathology; D028243:Cerebral Amyloid Angiopathy, Familial / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005192:Family Health; D006801:Humans; D007930:Leucine / Q000235:genetics; D009154:Mutation; D016874:Neurofibrillary Tangles / Q000473:pathology; D010375:Pedigree; D014057:Tomography, X-Ray Computed / Q000379:methods; D014633:Valine / Q000235:genetics
D016229:Amyloid beta-Peptides; D016564:Amyloid beta-Protein Precursor; D007930:Leucine; D014633:Valine