[Autopsy cases of hereditary ataxia pathologically diagnosed as the Japanese type of Joseph disease--cliniconeuropathological findings]

Abstract

Two cases (father and son) clinically diagnosed as Menzel type of heredoataxia were examined pathologically, and found nonspecific, multisystem degenerations of central nervous system spreading from brain stem to cerebellum and spinal cord. Common neuropathological findings of both cases were marked neuronal loss, demyelination and cellular and fibrous gliosis in pallidum (esp. internal segment), body of Luys, substantia nigra, dentate nucleus, red nucleus, cranial and spinal motor nuclei, spinocerebellar tracts and Clarke's column. There were no abnormalities in cerebral cortex, caudate nucleus, putamen, thalamus and inferior olive nucleus. These findings had enough similarity to that of Japanese type of Joseph disease. The son who died 36 years old had showed clinically hyperreflexia, cerebellar ataxia, dystonic extrapyramidal movement, muscle atrophy and bulging eyes. Dominant pathological findings compared to the father case were neuronal loss of substantia nigra and red nucleus, fibrous gliosis of superior peduncles and grumose degeneration of dentate nucleus. The father case died 76 years old had showed hyporeflexia, cerebellar ataxia and no bulging eyes clinically. The pathologica findings of pallidum, cranial and spinal motor nuclei, dorsal column and spinocerebellar tracts were more dominant than the other reported case. Dementia, mental retardation, epileptic episodes were not found in this family pedigree. Pathological changes of pallidonigral, pallidoluysian, dentatorubral and spinal cord which were common in Japanese type were less found in original type of Joseph disease in Europe. Authors discussed this difference in relation with progressive pallidumatrophy, dentato-rubro-pallido-luisian atrophy and hereditary spastic ataxia. According to the classification of clinical feature of Joseph disease in Europe, the father case was classified as type III (Machado phenotype) and the son case was as type I (Joseph phenotype). Reported cases of type III and familial autopsy cases of Joseph disease were so rare in Japan, authors reported on their clinicopathological findings.