<i>PSEN1</i> Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype

<i>PSEN1</i> 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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Bibliographic Details
Main Authors: Ilaria Palmieri, Marialuisa Valente, Lisa Maria Farina, Simone Gana, Brigida Minafra, Roberta Zangaglia, Orietta Pansarasa, Daisy Sproviero, Alfredo Costa, Claudio Pacchetti, Anna Pichiecchio, Stella Gagliardi, Cristina Cereda
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:International Journal of Molecular Sciences
Subjects:
cerebral amyloid angiopathy
CAA
<i>PSEN1</i>
next-generation sequencing
NGS
compound heterozygous mutations
Online Access:https://www.mdpi.com/1422-0067/22/8/3870

Internet

https://www.mdpi.com/1422-0067/22/8/3870

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