Novel neuronal cytoplasmic inclusions in a patient carrying SCA8 expansion mutation

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....

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Bibliographic Details
Published in:Neuropathology 2014-02, Vol.34 (1), p.27-31
Main Authors: Yokoyama, Teruo, Ishiyama, Miyako, Hasegawa, Kazuko, Uchihara, Toshiki, Yagishita, Saburo
Format: Article
Language:English
Subjects:
Adult
Cytoplasm - ultrastructure
DNA Repeat Expansion
Expansion
Humans
Inclusion Bodies - genetics
Inclusion Bodies - ultrastructure
Male
Mutation
neuronal cytoplasmic inclusion
Neurons - ultrastructure
ribosomal aggregation
SCA8
Spinocerebellar Ataxias - genetics
Spinocerebellar Ataxias - pathology
TDP43
ultrastructure
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Summary: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.
ISSN:0919-6544
1440-1789
DOI:10.1111/neup.12042