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.
D000328:Adult; D001284:Atrophy; D002526:Cerebellar Diseases / Q000175:diagnosis / Q000235:genetics / Q000652:urine*; D002869:Chromosome Aberrations / Q000652:urine; D025063:Chromosome Disorders; D006801:Humans; D008297:Male; D009847:Olivary Nucleus; D011149:Pons; D014556:Urine / Q000032:analysis*; D014835:Volatilization