Farpour H, Mahloudji M
Arch Neurol. 1975 Apr;32(4):223-5. doi: 10.1001/archneur.1975.00490460039003.
Cerebrotendinous xanthomatosis occurred in a new family. This is a rare familial disorder characterized by juvenile cataracts, enlargement of tendons, low intelligence, and a variable neurological syndrome with cerebellar ataxia as the most prominent feature. The mode of inheritance is autosomal recessive. The basic defect remains obscure, but recent investigations have shown an excess of cholestanol in the tissues and serum of affected persons, which forms the basis of diagnosis.
脑腱性黄瘤病出现在一个新的家族中。这是一种罕见的家族性疾病，其特征为青少年白内障、肌腱肿大、智力低下以及以小脑共济失调为最突出特征的可变神经综合征。遗传方式为常染色体隐性遗传。基本缺陷仍不清楚，但最近的研究表明，患病者的组织和血清中胆甾烷醇过多，这构成了诊断的基础。
