Development of the nosological analysis of juvenile parkinsonism

In the nosological viewpoint concerning diseases with a pathophysiological dysfunction of the nigro-striatal dopaminergic system, juvenile parkinsonis m (JP) is discussed in this paper in relation to hereditary progressive dys tonia (HPD) and Parkinson's disease (PD). Most cases of JP have dystonia wi th parkinsonism, which is the main symptom of HPD. In the symptomatological analysis of complication with dystonia, an interesting observation arose a s regards on the anatomical and functional development of the basal ganglia through patients with childhood onset HPD and JP. Genetic analysis reveale d the disease entity of BPD to be an abnormality of the GTP-CH I gene. Cons equently, it has been clarified that clinical differences between HPD and J P were not merely derived from differences in developmental processes. Furt hermore, the autosomal recessive type of JP (AR-JP) was confirmed to be a d isease entity by the detection of an abnormality of the 'parkin' gene. The nosological controversy about JP and PD in the clinical standpoint has been clarified. However, as more than half of patients with JP do not carry a m utation in the 'parkin' gene, more investigations concerning nosological en tities should be carried out. The absence of Lewy bodies in most patients w ith AR-JP has been confirmed to be a characteristic neouropathological find ing as compared with those with typical PD pathology. In this paper, we dis cuss the above findings. (C) 2000 Published by Elsevier Science B.V.