2014 Fiscal Year Final Research Report
A clinicopathological study of ALS cases lacking Bunina bodies
| Project/Area Number |
25830038
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Nerve anatomy/Neuropathology
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| Research Institution | Niigata University |
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Principal Investigator |
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| Project Period (FY) |
2013-04-01 – 2015-03-31
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| Keywords | 筋萎縮性側索硬化症 / ブニナ小体 / TDP-43 |
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| Outline of Final Research Achievements |
Bunina bodies, the pathologic hallmark of amyotrophic lateral sclerosis (ALS), are eosinophilic chain-like inclusions typically found in the lower motor neurons. The aim of the present study was to elucidate the clinicopathological features of ALS in which Bunina bodies are not evident. Among 160 autopsied patients with ALS investigated, Bunina bodies were absent in 28 (17%), which included 7 cases showing very severe loss of lower motor neurons and 5 showing typical ALS features besides the absence of Bunina bodies. Among the remaining cases, 8 had SOD1-positive structures, 2 had FUS-positive structures, one showed compound heterozygous mutations in the SQSTM1 gene, one showed multisystem degeneration beyond the motor neuron systems, and one was a case of early adult onset ALS. In conclusion, we have confirmed that patients with ALS lacking Bunina bodies may show clinicopathological features atypical for ALS.
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| Free Research Field |
神経病理学
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