| 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)
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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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