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Article

Novel insights into presenilin 1 mutation associated with a distinctive dementia phenotype and cotton wool plaques.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Oct 2024

Yamagata Hidehisa D, Akatsu Hiroyasu, Fukuoka Tomoya, Wake Akito, Watanabe Ichiro, KImura Naoto, Miki Tetsuro, Kamada Kazuo, Miyazaki Tatsuhiko, Yamamoto Takayuki, Hori Akira, Sato Naoyuki, Mimuro Maya, Yoshida Mari, Hashizume Yoshio

Abstract excerpt

BACKGROUND: The mutations in the presenilin 1 gene (PSEN1) are the main cause of familial Alzheimer's disease. PSEN1 mutations affect amyloid-beta peptide production, which accumulates in the brain as senile plaque and cotton wool plaques (CWPs) and relates to other neurodegenerative disorders. Here we report the second case of the PSEN1 G266S mutation, which showed distinctive neuropathological features,...

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PMID: 38755484
DOI: 10.1007/s10072-024-07537-1

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