Dentatorubral-pallidoluysian atrophy (DRPLA)
作者： Mitsunori Yamada
DOI: 10.1111/J.1440-1789.2010.01120.X
关键词: Lesion 、 Disease 、 Dentatorubral-pallidoluysian atrophy 、 Neuropathology 、 Biology 、 Degeneration (medical) 、 Atrophy 、 Mutation 、 Pathology 、 Pathogenesis 、 Pathology and Forensic Medicine 、 Clinical neurology 、 General Medicine
摘要: Dentatorubral-pallidoluysian atrophy (DRPLA) is a hereditary spinocerebellar degeneration. Despite the establishment of this disease in 1982, it has been pointed out that DRPLA an unexplained aspect concerning its clinicopathological features; is, discrepancy between variety clinical manifestations and uniformity brain lesions. The discovery causative gene mutation (abnormal expansion CAG repeat gene) triggered development novel neuropathology DRPLA, which suggested polyglutamine-related pathogenesis involves wide range central nervous system regions far beyond systems previously reported to be affected. It now likely neuronal storage disorder multiple degeneration, lesion distribution varies depending on sizes gene.
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