遺伝性白質脳症の定義・診断・治療アプローチ

Hereditary Leukoencephalopathy: Overview to Definition, Diagnosis and Treatment

遺伝性白質脳症は，脳白質障害を呈する多様な疾患群である。近年，画像診断や遺伝子解析の進歩により病態理解が深まり，分類と診断体系が整備されてきた。多くは根治療法がないものの，一部疾患には造血幹細胞移植など新規治療の光明が見えつつある。早期かつ正確な診断が予後の改善や将来の治療開発につながると期待される。

Abstract

Hereditary leukoencephalopathies represent a heterogeneous group of inherited disorders characterized by abnormalities in the white matter of the brain. Recent advances in neuroimaging and genetic analyses have deepened our understanding of the underlying pathologies, leading to refined classification and diagnostic frameworks. Although many have no curative therapy, new treatments, such as hematopoietic stem cell transplantation, offer promising prospects for some of these diseases. Early and accurate diagnosis is critically important as it may improve management strategies and ultimately enhance patient outcomes.