Subject(s)
Amnesia/diagnosis , Amnesia/physiopathology , Brain/anatomy & histology , Brain/physiopathology , Female , Humans , Middle AgedABSTRACT
We studied Joseph disease clinically and pathologically in two patients of Portuguese ancestry, but from different families. We found involvement of spinocerebellar tracts, Clarke's column, anterior horn cells, motor cranial nerve nuclei, and substantia nigra. One patient also had pallidosubthalamic and pontocerebellar degeneration with normal inferior olives. The second patient, a Joseph family member, had nerve cell loss in the subthalamic nucleus. The neostriatum appeared normal in both cases. The pigmented nuclei contained a few Lewy bodies. The almost identical pathology in two families support the hypothesis that Joseph disease is a genetic entity.
Subject(s)
Basal Ganglia Diseases/pathology , Cerebellar Diseases/pathology , Nerve Degeneration , Adult , Azores/ethnology , Basal Ganglia Diseases/genetics , Brain/pathology , Cerebellar Ataxia/pathology , Cerebellar Diseases/genetics , Ethnicity , Female , Humans , Male , Middle Aged , Nerve Fibers, Myelinated/pathology , Spinal Cord/pathology , Thalamic Nuclei/pathologySubject(s)
Financing, Government , Neurology , Public Opinion , National Institutes of Health (U.S.) , Research , United StatesABSTRACT
We present the pathologic findings, including electron microscopy, in one of two affected borthers with severe progressive myoclonus epilepsy, beginning in our patient at the age of 10 and leading to death at age 23. At autopsy there was widespread and marked neuroaxonal dystrophy, severe cerebellar atrophy, and tract degenerations in the gracilis columns and the lateral corticospinal tracts in the spinal cord. There was no increased pigmentation in the globus pallidus or reticular zone of the substantia nigra, on gross or microscopic examination. We regard this case as an example of a juvenile form of neuroaxonal dystrophy (Seitelberger's disease). The absence of pallido-nigral hyperpigmentation distinguishes this disease from Hallervorden-Spatz disease, which we regard as a separate disease entity.