脑腱黄瘤病引起的共济失调

定义

脑腱黄瘤病性共济失调是一种罕见的常染色体隐性胆汁酸代谢障碍，由编码线粒体固醇27羟化酶的CYP27A1基因突变引起。固醇在多组织中的积累会导致儿童晚期出现早发性白内障和肌腱黄瘤，随后出现进行性神经功能障碍，如共济失调、痴呆和多发性神经病。

Ataxia in the setting of cerebrotendinous xanthomatosis, a rare autosomal recessive disorder of bile acid metabolism caused by a mutation in the CYP27A1 gene encoding mitochondrial enzyme sterol 27-hydroxylase. Accumulation of sterols in multiple tissues leads to premature cataracts and tendon xanthomas in late childhood, followed by progressive neurological dysfunction such as ataxia, dementia, and polyneuropathy.

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• 脑腱黄瘤病引起的共济失调