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Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile.

Scientific reports - 13 Nov 2020

Lin Yung-Shuan, Cheng Chih-Ya, Liao Yi-Chu, Hong Chen-Jee, Fuh Jong-Ling

Abstract excerpt

Mutations in PSEN1, PSEN2, or APP genes are known to be causative for autosomal dominant Alzheimer's disease (ADAD). While more than 400 mutations were reported worldwide, predominantly PSEN1, over 40 mutations have been reported in Han Chinese and were associated with earlier onset and more affected family members. Between 2002 and 2018, 77 patients in the neurological clinic of Taipei Veterans General Hospital...

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PMID: 33188256
DOI: 10.1038/s41598-020-76794-9
PMCID: PMC7666133

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