[Spinocerebellar atrophy and cerebellar calcification in a case of central neurofibromatosis (author's transl)]

Abstract

A woman of 27 years without any family history developed a progressive spinocerebellar disorder and died 28 years later. The mean neuropathological findings were cerebello-olivary atrophy (late atrophy), degeneration of the dentate nuclei and brachia conjunctiva, degeneration of the pyramidal and psinocerebellar tracts and of the pars reticulata of substantia nigra. Findings according to Hallervorden-Spatz' disease were confined to the globus pallidus. Extensive calcification occurred in the cerebellar cortex and the dentate nuclei. Foci of atypical glia, glial ectopias, subependymal glial modules and focal neuromas were found in the brain. It is suggested that this unique case represents a combination of spinocerebellar degeneration and central neurofibromatosis.