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Updated: Sep 9, 2025

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CSF1R-ミクログリアル脳病変の希少な内経性c.2654+1G>A変異:症例報告

HongYan Wu1, JingYu Shi2, XiaoShan Wang1

  • 1Department of Neurology, Guizhou University of Traditional Chinese Medicine, Guiyang, China.

Frontiers in genetics
|September 2, 2025
PubMed
まとめ

この研究では,特殊な変異を伴う稀なCSF1R-マイクログリアル脳症の症例が詳細に示されています. ネガティブ・ディフュージョン・ウェイトド・イメージング (DWI) とアルツハイマー病のようなCSFバイオマーカーは,認知機能低下の症例における早期の遺伝子検査の必要性を強調しています.

キーワード:
CSF1R (コロニー刺激因子1受容体)認知症遺伝子磁気共鳴画像検査マイクログリア

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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