A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas.
作者： R Sanchez‐Valle , A Llado , M Ezquerra , MJ Rey , L Rami
DOI: 10.1111/J.1468-1331.2007.01988.X
关键词: Missense mutation 、 Age of onset 、 Cerebral amyloid angiopathy 、 PSEN1 、 Pathology 、 Medicine 、 Presenilin 、 Proband 、 Alzheimer's disease 、 Cognitive decline
摘要: The aim of this study was to describe a novel mutation in exon 8 the presenilin gene (L286P) associated with early-onset autosomal dominant Alzheimer's disease (AD) and lobar haematomas. proband woman who developed cognitive decline predominant memory loss at age 35 years. patient died 54 years neuropathological examination confirmed diagnosis AD. Three her four siblings, one parent sibling had suffered from ages between 42 them also presented examination, available them, disclosed presence severe amyloid angiopathy as cause haematoma. PSEN1 single strand conformation polymorphism technique failed show abnormalities suggestive mutations. Direct sequencing missense codon 286 already affected descendent, which absent healthy sibling. L286P is that causes familial AD brain haematomas related angiopathy.
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