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Publications (2)4.65 Total impact

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    ABSTRACT: Ubiquitin (UB)-immunoreactive filamentous inclusions, absent in normal cases and in any other disorder, have been found in patients with amyotrophic lateral sclerosis (ALS) and it has been suggested that they may be characteristic of this disorder. However, there has been no study of UB in ALS skin. We made a quantitative immunohistochemical study of the expression of UB in the skin from 19 patients with sporadic ALS and 19 control subjects. The proportion of UB-positive (UB+) cells in the epidermis in ALS patients was significantly higher (p<0.001) than in controls. There was a significant positive relationship (r=0.92, p<0.001) between the proportion and duration of illness in ALS patients. The optical density of UB+ cells in the epidermis in ALS patients is markedly stronger (p<0.001) than in controls. There was a significant positive relation (r=0.58, p<0.01) between the immunoreactivity and duration of illness in ALS patients. These data suggest that changes of UB in ALS skin are related to the disease process and that metabolic alterations of UB may take place in the skin of patients with ALS.
    Journal of the neurological sciences 11/2010; 298(1-2):52-6. · 2.32 Impact Factor
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    ABSTRACT: We described a 43-year-old Japanese man with familial amyotrophic lateral sclerosis (FALS) in whom we identified a missense mutation (Cys111→Tyr) in exon 4 of the Cu/Zn superoxidase dismutase-1 (SOD1) gene in which no pathological data have been reported. The disease duration was 5 years, and he died of respiratory failure. The initial sign was weakness of the right leg. He had no clear upper motor involvement. Neuropathological examinations showed neuronal intracytoplasmic Lewy body-like hyaline inclusions (LBHIs) not only in the anterior horn cells of the spinal cord, but also in many other affected neurons. LBHIs were seen in the anterior horn cells, Onufrowicz nucleus, Clarke's nucleus, intermediolateral nucleus, and posterior gray horn of the spinal cord. In addition, LBHIs were observed in the periaqueductal gray matter, nucleus raphe dorsalis, locus ceruleus, trigeminal motor nucleus, vestibular nucleus, dorsal vagal nucleus, hypoglossal nucleus, and reticular formation of the brain stem. These are very specific findings that neuronal LBHIs in our case are for more widespread reported cases, and similar cases to ours have never reported in FALS.
    Journal of the neurological sciences 09/2010; 300(1-2):182-4. · 2.32 Impact Factor