脑腱黄瘤病的临床和疾病基因的表现

Clinical and Pathogenetic Aspects in the Cerebrotendinous Xanthomatosis

脑腱黄瘤病是一种线粒体固醇27羟化酶缺乏的常染色体隐性遗传疾病,临床表现和致病基因表现的有利于临床医生诊断本病。文中就脑腱黄瘤病的临床表现、CYP27A1基因突变、病理和发病机制、治疗方法等研究进行介绍。

Cerebrotendinous xanthomatosis（CTX） is an autosomal recessive disease due to defective activity of the mitochondrial enzyme sterol 27-hydroxylase. Clinical manifestation, mutation of CYP27 A1 gene, pathogenetic aspects and the treatment of CTX were reviewed.