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Distribution of ferritin complex in the adult brain and altered composition in neuroferritinopathy due to a novel variant in the ferritin heavy chain gene FTH1 (c.409_410del; p.H137Lfs*4).

Authors :
Umathum, Vincent
Weber, Axel
Amsel, Daniel
Alexopoulos, Ioannis
Becker, Christina
Roth, Angela
Günther, Andreas
Selignow, Carmen
Ritschel, Nadja
Nishimura, Anna
Schaiter, Alexander
Németh, Attila
van der Ven, Peter F. M.
Acker, Till
Schänzer, Anne
Source :
Brain Pathology. Jan2024, Vol. 34 Issue 1, p1-6. 6p.
Publication Year :
2024

Abstract

This article explores the distribution and composition of the ferritin complex in the adult brain and its connection to neuroferritinopathy (NF), a type of neurodegeneration with brain iron accumulation (NBIA). NF is characterized by symptoms like movement disturbances and tremors. The study identifies a novel variant in the ferritin heavy chain gene (FTH1) that is associated with NF and provides insights into the role of ferritin in both healthy and diseased brains. The authors, a diverse group of researchers, present their findings in a respectful and culturally sensitive manner, making this report a valuable resource for library patrons researching this topic. [Extracted from the article]

Details

Language :
English
ISSN :
10156305
Volume :
34
Issue :
1
Database :
Academic Search Index
Journal :
Brain Pathology
Publication Type :
Academic Journal
Accession number :
174106867
Full Text :
https://doi.org/10.1111/bpa.13176