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Hereditary spinocerebellar degeneration: Pathologic re-evaluation Mitsunori Yamada 1 , Hitoshi Takahashi 1 1Department of Pathology, Brain Research Institute, Niigata University Keyword: ポリグルタミン病 , 病理 , 病変分布 pp.377-384
Published Date 2004/6/10
DOI https://doi.org/10.11477/mf.1431100267
  • Abstract
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 The expansion of a CAG repeat that codes for polyglutamine is a common gene mutation in the family of hereditary neurodegenerative diseases that includes dentatorubral-pallidoluysian atrophy(DRPLA), Machado-Joseph disease(MJD)and Huntington's disease. It is recognized that intranuclear accumulation of mutant proteins with expanded polyglutamine stretches is a pathological characteristic of neurons in CAG repeat diseases. In DRPLA, this nuclear pathology involves many neurons in various nervous system regions, such as the cerebral cortex, thalamus, substantia nigra and pontine nuclei in addition to the previously recognized affected regions. It has been revealed that the dentatorubral and pallidoluysian systems are the regions in which more than 60%of neurons are constantly involved by the pathology. In contrast, affected neurons in some regions such as the cerebral cortex extremely vary in number depending on the size of CAG repeat. These situations may be responsible for a variety of phenotypes, such as dementia and epilepsy in the subtypes of DRPLA. The expansion of potential CNS lesions assessed by this nuclear pathology is also demonstrated in MJD, Huntington's disease. In CAG repeat diseases, the variable prevalence of this characteristic may be relevant to the variation of clinical symptoms in patients with different repeat sizes.


Copyright © 2004, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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