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Cerebrotendinous xanthomatosis

机译：克雷替丁黄瘤病

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Purpose of review: Cerebrotendinous xanthomatosis (CTX) is a rare neurological disease characterized by accumulation of cholesterol and cholestanol in brain and tendons caused by a mutation in the sterol 27-hydroxylase gene (CYP27A1). The mechanism behind the accumulation of cholestanol in the brain was recently clarified and a role of 27-hydroxycholesterol as a regulator of brain cholesterol homeostasis has been established. Recent findings: There is a significant flux of the bile acid precursor 7α-hydroxy-4-cholesten-3-one across the blood-brain barrier in cy27-/- mice with its subsequent conversion into cholestanol. CTX patients with white matter lesions and vacuolation are described. CYP27A1 was identified as a candidate gene for sporadic amyotrophic lateral sclerosis (ALS). Summary: The mechanism behind accumulation of cholestanol in brain and tendons of patients with CTX has been clarified but it is not known why this accumulation is associated with parallel accumulation of cholesterol and formation of xanthomas. Further studies are needed to understand why some patients with CTX develop white matter lesions in the brain. In view of the fact that CTX can present with upper motor neuronal signs it is interesting that CYP27 has been shown to be a candidate gene for sporadic ALS.
机译：审查目的：脑腱黄瘤病（CTX）是一种罕见的神经系统疾病，其特征是胆固醇和胆固醇在胆固醇和胆固醇中的积累是由固醇27-羟化酶基因（CYP27A1）突变引起的。最近阐明了胆固醇在大脑中积累的机制，并且已经建立了27-羟基胆固醇作为脑胆固醇稳态调节剂的作用。最近的发现：在cy27-/-小鼠中，胆汁酸前体7α-羟基-4-胆甾烯-3-酮显着地穿过血脑屏障，随后转化为胆甾醇。描述了患有白质病变和空泡的CTX患者。 CYP27A1被确定为散发性肌萎缩性侧索硬化症（ALS）的候选基因。简介：胆固醇在CTX患者的大脑和肌腱中蓄积的机制已经阐明，但尚不清楚为什么这种蓄积与胆固醇的平行蓄积和黄瘤的形成有关。需要进一步的研究来了解为什么某些CTX患者会在大脑中发展出白质病变。鉴于CTX可以出现上运动神经元信号，因此有趣的是，CYP27已被证明是散发性ALS的候选基因。

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