Rosenberg R N, Robinson A B, Partridge D
Clin Biochem. 1975 Dec;8(6):365-8. doi: 10.1016/s0009-9120(75)93752-2.
Autosomal dominant olivopontocerebellar degeneration was evaluated in a family numbering 414 living members. Urine samples were obtained from 5 affected and 5 unaffected not at-risk family members after 4 days on a synthetic diet. 159 urine vapor constituents were measured by gas-liquid and ion-exchange chromatography and a non-correlation index was calculated. 2 distinct populations of urine vapor patterns were identified which conformed to the normal and disease affected groups, thus a diagnostically useful pattern for this disease in this family has been demonstrated which will be helpful in genetic counselling and potential elimination of the disease.
对一个有414名在世成员的家族进行了常染色体显性遗传性橄榄体脑桥小脑萎缩症评估。在食用合成饮食4天后，从5名患病和5名未患病且无患病风险的家族成员中采集了尿液样本。通过气液色谱法和离子交换色谱法测量了159种尿液蒸汽成分，并计算了非相关指数。确定了两种不同的尿液蒸汽模式群体，分别与正常组和患病组相符，因此证明了该家族中这种疾病的一种具有诊断价值的模式，这将有助于遗传咨询和可能的疾病消除。
