Premium
Novel neuronal cytoplasmic inclusions in a patient carrying SCA8 expansion mutation
Author(s) -
Yokoyama Teruo,
Ishiyama Miyako,
Hasegawa Kazuko,
Uchihara Toshiki,
Yagishita Saburo
Publication year - 2014
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/neup.12042
Subject(s) - cytoplasm , rna , ribosome , rna splicing , cytoplasmic inclusion , biology , messenger rna , transcription (linguistics) , microbiology and biotechnology , gene , genetics , linguistics , philosophy
It has been reported that abnormal processing of pre‐ mRNA is caused by abnormal triplet expansion. Non‐coding triplet expansions produce toxic RNA to alter RNA splicing activities. However, there has been no report on the globular RNA aggregation in neuronal cytoplasmic inclusions ( NCIs ) up to now. We herein report on an autopsy case (genetically determined as spinocerebellar atrophy 8 ( SCA8 )) with hitherto undescribed NCIs throughout the brain. NCIs were chiefly composed of small granular particles, virtually identical to ribosomes. Neurological features are comparable to the widespread lesions of the brain, including the spinal cord. Although 1C2 ‐positivity of NCIs might be induced by reverse transcription of the CTG expansion, it remains to be clarified how abnormal aggregations of ribosome and extensive brain degeneration are related to the reverse or forward transcripts of the expanded repeat.