We review the neuropathology of hereditary dentatorubral-pallidoluysian atrophy (DRPLA), a clinicopathological disease entity originally estabhshed by Naito and Oyanagi (1982). The disease can be divided clinically into three types, juvenile, early adult and late adult, on the basis of the patients age at onset. In the juvenile type, showing progressive myoclonus epilepsy (PME) syndrome, degeneration manifested by neuron loss and gliosis is more marked in the globus pallidus than in the dentate nucleus. In the early adult type, showing milder symptoms of myoclonus and epilepsy, the globus pallidus and dentate nucleus tend to be equally affected to various degrees. In the late adult type without PME syndrome, degeneration of the dentate nucleus is more evident than that of the globus pallidus. Although degeneration of the dentatorubral and pallidoluysian systems is a cardinal feature, other regions are also involved in this disease ; the brainstem and spinal cord show apparent atrophy, which is mild to moderate in the juvenile and early adult types and severe in the late adult type, and myelin pallor is noticed occasionally in the lateral corticospinal tract of the spinal cord as well as in the cerebral white matter. Tsuji and associates (1994) have recently identified unstable expansion of a CAG repeat in a gene on the short arm of chromosome 12 as the pathogenic mutation responsible for the disease. In further studies, the above neuropathology of hereditary DRPLA will be reestimated in detail in relation to the size of the CAG repeat expansion in each autopsied individual.
5)遺伝性歯状核赤核淡蒼球ルイ体萎縮症の神経病理(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)
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