CLINICAL AND NEUROPATHOLOGICAL ASPECTS OF AUTOSOMAL RECESSIVE JUVENILE PARKINSONISM

The onset of autosomal recessive-type parkinsonism is usually at a rel atively young age (i.e. before the age of 40 years) and is thus called autosomal recessive juvenile parkinsonism (AR-JP). Here the clinical features, laboratory and imaging findings, neuropathological features, differential diagnosis and treatment options of AR-JP are described. We have treated 17 patients with AR-JP; they presented with sleep bene fit in parkinsonian symptoms and foot dystonia as specific signs. The parkinsonian triad was mild, and the tremor was usually fine postural. A postural instability and adiadochokinesia were rather prominent. Ga it freezing and hyperreflexia were frequently observed. The levodopa e fficacy was sufficient and the clinical course was benign; however, ch oreic limb dyskinesia and the wearing-off phenomenon occurred easily. A neuropathological examination of one of the patients revealed that i n the substantia nigra pars compacta and locus ceruleus, the number of neurons was low, and the content of neuromelanin in the neurons was s mall. There were focal degenerations (e.g. gliosis and extraneuronal f ree melanin) in the substantia nigra pars compacta. In addition, Lewy bodies were not found anywhere in the central nervous system. Consider ing these specific clinical and neuropathological findings, AR-JP seem s to constitute one disease entity.