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Article

Identification of the Third Case of PSEN1 Tyr389His Variant in Early-Onset Alzheimer's Disease in Korea.

International journal of molecular sciences - 19 Dec 2022

Shim Kyu Hwan, Kang Sangjoon, An Seong Soo A, Kang Min Ju

Abstract excerpt

Amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) are associated with autosomal-dominant early-onset Alzheimer's disease (AD). Most mutations have been identified in the PSEN1 gene. We discovered a PSEN1 mutation (Tyr389His) in a Korean patient with early-onset AD who presented memory decline at 41 years of age followed by language, memory, and visuospatial dysfunctions. As this is...

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PMID: 36555832
DOI: 10.3390/ijms232416192
PMCID: PMC9781446

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