Histological and biochemical pathology in a family with autosomal dominant Parkinsonism and dementia

We report histopathological and biochemical data on 5 brains of parkinsonian/dementia cases from a single kinship. They are characterized by pallidoponto-nigral degeneration in standard pathology. Immunohistochemically, abundant neuropil threads, complement activated oligodendrocytes, and oligodendroglial microtubular masses were found in many areas, extending the pathology far beyond that revealed by standard classical methods. Biochemically, dopamine and its metabolites were markedly reduced in both caudate and putamen, with little loss of indole derivatives. Choline acetyltransferase was reduced in the cortex, striatum, globus pallidus and pontine reticular formation nuclei, and β-glucuronidase, a possible glial marker, was elevated in the last two regions and in the motor and allo cortices. The findings are compared with those in sporadic Parkinsonism, progressive supranuclear palsy, Huntington's disease and pallidonigro-luysial degeneration.