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Article

Clinical phenotype of G206D mutation in the presenilin 1 gene in pathologically confirmed familial Alzheimer's disease.

Journal of Alzheimer's disease : JAD - 1 Jan 2011

Wu Ya-Ying, Cheng Irene Han-Juo, Lee Chin-Cheng, Chiu Ming-Jang, Lee Ming-Jen, Chen Ta-Fu, Hsu Jung-Lung

Abstract excerpt

Familial Alzheimer's disease (FAD) is genetically heterogeneous, autosomal dominant, with nearly 100% penetrance. In FAD, most common causative genetic mutations are presenilin 1 (PSEN1), presenilin 2 and amyloid-β protein precursor. We demonstrate a family presenting as early-onset AD with a rapid deterioration course and seizure developed after 1.5 years of symptoms. A histopathological examination of the...

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Source

Identifiers

PMID: 21335660
DOI: 10.3233/JAD-2011-102031

Genes

PSEN1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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