Urine vapor pattern for olivopontocerebellar degeneration

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.