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Joseph's disease: Clinical and pathological studies in a Japanese family
Author(s) -
Yuasa Tatsuhiko,
Ohama Eisaku,
Harayama Hiromi,
Yamada Mitsunori,
Kawase Yasuhiro,
Wakabayashi Masatoshi,
Atsumi Tetsushi,
Miyatake Tadashi
Publication year - 1986
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410190207
Subject(s) - dysarthria , pathology , ataxia , medicine , machado–joseph disease , substantia nigra , pathological , dystonia , dentate nucleus , atrophy , brainstem , spinocerebellar ataxia , thalamus , cerebellum , degenerative disease , anatomy , neuroscience , disease , psychology , parkinson's disease , audiology
Joseph's disease is a hereditary ataxia found among descendants of Portuguese from the Azores Islands. We describe the clinical and pathological features of 4 members of a Japanese family who were diagnosed as having Joseph's disease. The illness began with cerebellar ataxia between the ages of 18 and 45 years. Nystagmus, dysarthria, and pyramidal signs were early manifestations. External ophthalmoplegia, dystonia and/or athetotic movements, and muscular atrophy appeared in the late stages. Neuropathological findings in one patient revealed degeneration of the dentatorubral and pallidoluysian systems, substantia nigra, pontocerebellar system, Clarke's column and spinocerebellar tracts, and anterior horn cells, as well as the cranial nuclei in the brainstem. Neurons in the inferior olivary nuclei, Purkinje's and granule cells, the cerebral cortex, thalamus, and striatum were spared. Involvement of the dentatorubral and pallidoluysian systems seems to be a characteristic feature of this disease in Japan.