PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype.
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ABSTRACT:
SUBMITTER: Palmieri I
PROVIDER: S-EPMC8069161 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
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<i>PSEN1</i> Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype.
Palmieri Ilaria I Valente Marialuisa M Farina Lisa Maria LM Gana Simone S Minafra Brigida B Zangaglia Roberta R Pansarasa Orietta O Sproviero Daisy D Costa Alfredo A Pacchetti Claudio C Pichiecchio Anna A Gagliardi Stella S Cereda Cristina C
International journal of molecular sciences 20210408 8
Cerebral amyloid angiopathy (CAA) is a cerebrovascular disorder caused by the deposition of amyloid beta-peptide (Aβ) aggregates. Aβ aggregates lead to vessel rupture and intracerebral hemorrhages, detected by magnetic resonance imaging (MRI). Presenile CAA is usually genetically determined by mutations in the amyloid precursor protein (<i>APP</i>) gene. However, mutations after codon 200 in the presenilin 1 (<i>PSEN1</i>) gene have been reported to facilitate CAA onset. Here, we analyzed the ge ...[more]
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