PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype

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 mutat...

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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Palmieri, Ilaria, Valente, Marialuisa, Farina, Lisa Maria, Gana, Simone, Minafra, Brigida, Zangaglia, Roberta, Pansarasa, Orietta, Sproviero, Daisy, Costa, Alfredo, Pacchetti, Claudio, Pichiecchio, Anna, Gagliardi, Stella, Cereda, Cristina
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8069161/
https://ncbi.nlm.nih.gov/pubmed/33918046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22083870
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