[Diagnostic problems in juvenile Huntington chorea]

Huntington's disease (HD) may cause considerable diagnostic problems because of the highly variable clinical features, especially at the beginning of the illness. We report the case of a 21-year-old woman with definite HD whose main symptoms were psychopathological changes that were misinterpreted as schizophrenia for 7 years. One reason for this misdiagnosis was the unusual, very early onset and the remarkable earlier age of onset of HD compared with that of other affected relatives. The phenomenon of earlier onset within one affected family is well documented in the literature in cases with the paternally transmitted mutated gene. Diagnostic landmarks were consideration of the initially mild disturbances of movement and the once again repeated detailed examination of the family history.