Ontology highlight
ABSTRACT:
SUBMITTER: Zhang S
PROVIDER: S-EPMC7240292 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Zhang Shouzi S Li Xiang X Zhang Li L Meng Xiangyan X Ma Li L Zhang Guangze G Wu Haiyan H Liang Ling L Cao Meng M Mei Fan F
Frontiers in psychiatry 20200514
Alzheimer's disease (AD) is the most common form of neurodegenerative dementia. In this study, whole genome sequencing identifies one rare and likely pathogenic mutation in the <i>presenilin 1 (PSEN1)</i> gene (c.356C > T, p.T119I) associated with a frontal variant of AD. Affected individuals in the kindred developed late-onset cognitive decline accompanied with early presentation of psychiatric symptoms. Positive amyloid PiB PET tracing suggested presence of pathophysiological biomarker for AD. ...[more]