Large APP locus duplication in a sporadic case of cerebral haemorrhage

We report a 54-year-old man who was admitted to the hospital because of acute neurological symptoms due to a cerebral haemorrhage. Postmortem brain examination revealed a lobar haemorrhage and advanced AD neuropathologic changes associated with severe cerebral amyloid angiopathy. Genetic study evide...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Neurogenetics 2014-05, Vol.15 (2), p.145-149
Hauptverfasser:	Lladó, Albert, Grau-Rivera, Oriol, Sánchez-Valle, Raquel, Balasa, Mircea, Obach, Víctor, Amaro, Sergio, Rey, Ma Jesús, Molinuevo, José L., Gelpi, Ellen, Antonell, Anna
Format:	Artikel
Sprache:	eng
Schlagworte:	Alzheimer Disease - genetics Amyloid beta-Protein Precursor - genetics Asymptotic methods Biomedical and Life Sciences Biomedicine Brain - pathology Cerebral Amyloid Angiopathy - genetics Cerebral Hemorrhage - complications Gene Duplication Genetic Loci Hemorrhage Human Genetics Humans Male Middle Aged Molecular Medicine Mutation Neurological disorders Neurosciences Presenilin-1 - genetics Short Communication
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	We report a 54-year-old man who was admitted to the hospital because of acute neurological symptoms due to a cerebral haemorrhage. Postmortem brain examination revealed a lobar haemorrhage and advanced AD neuropathologic changes associated with severe cerebral amyloid angiopathy. Genetic study evidenced the presence of a large APP locus duplication (APPdup) in the patient and a PSEN1 p.E318G polymorphism in him and his older asymptomatic sibling. The APPdup spanned 14.5 Mb and blocks of segmental duplications were detected in the breakpoints. We propose the replication-based mechanism of Fork Stalling Template Switching (FoSTeS) to explain this APPdup rearrangement.
ISSN:	1364-6745 1364-6753
DOI:	10.1007/s10048-014-0395-z