Novel insights into presenilin 1 mutation associated with a distinctive dementia phenotype and cotton wool plaques-Reference-Cited by-同舟云学术

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

Published:2024-05-17 Issue: Volume: Page:
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

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

Funder

Japanese Millennium Project

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s10072-024-07537-1.pdf

Reference19 articles.

1. Breijyeh Z, Karaman R (2020) Comprehensive review on Alzheimer’s disease: causes and treatment. Molecules 25:5789. https://doi.org/10.3390/molecules25245789

2. Van Giau V, Pyun JM, Suh J, Bagyinszky E, An SSA, Kim SY (2019) A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease. BMC Neurol 19:188. https://doi.org/10.1186/s12883-019-1419-y

3. Crook R, Verkkoniemi A, Perez-Tur J et al (1998) A variant of Alzheimer’s disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nat Med 4:452–455. https://doi.org/10.1038/nm0498-452

4. Ryan NS, Nicholas JM, Weston PSJ et al (2016) Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer’s disease: a case series. Lancet Neurol 15:1326–1335. https://doi.org/10.1016/S1474-4422(16)30193-4

5. Matsubara-Tsutsui M, Yasuda M, Yamagata H et al (2002) Molecular evidence of presenilin 1 mutation in familial early onset dementia. Am J Med Genet 114:292–298. https://doi.org/10.1002/ajmg.10250