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 |
Research Field |
Nerve anatomy/Neuropathology
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Research Institution | Niigata University |
Principal Investigator |
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Project Period (FY) |
2013-04-01 – 2015-03-31
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Project Status |
Completed (Fiscal Year 2014)
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Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2013: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
|
Keywords | 筋萎縮性側索硬化症 / ブニナ小体 / TDP-43 / 神経病理学 |
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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Report
(3 results)
Research Products
(9 results)
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[Journal Article] Globular Glial Mixed Four Repeat Tau and TDP-43 Proteinopathy with Motor Neuron Disease and Frontotemporal Dementia.2015
Author(s)
Takeuchi R, Toyoshima Y, Tada M, Tanaka H, Shimizu H, Shiga A, Miura T, Aoki K, Aikawa A, Ishizawa S, Ikeuchi T, Nishizawa M, Kakita A, Takahashi H.
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Journal Title
Brain Pathology
Volume: in press
Issue: 1
Pages: 82-94
DOI
Related Report
Peer Reviewed
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[Journal Article] Sporadic ALS with compound heterozygous mutation in the SQSTM1 gene.2013
Author(s)
Shimizu H, Toyoshima Y, Shiga A, Yokoseki A, Arakawa K, Sekine Y, Shimohata T, Ikeuchi T, Nishizawa M, Kakita A, Onodera O, Takahashi H
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Journal Title
Acta Neuropathol
Volume: 126
Issue: 3
Pages: 453-459
DOI
Related Report
Peer Reviewed
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