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    Neurology. 2005 Dec 27;65(12):1954-7. Epub 2005 Nov 16.

    Rapid disease progression correlates with instability of mutant SOD1 in familial ALS.

    Sato T, Nakanishi T, Yamamoto Y, Andersen PM, Ogawa Y, Fukada K, Zhou Z, Aoike F, Sugai F, Nagano S, Hirata S, Ogawa M, Nakano R, Ohi T, Kato T, Nakagawa M, Hamasaki T, Shimizu A, Sakoda S.

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    Department of Neurology, Osaka University Graduate School of Medicine, Suita, Osaka 565-0871, Japan.

    Abstract

    Studies on the clinical course of familial ALS suggest that the duration of illness is relatively consistent for each mutation but variable among the different mutations. The authors analyzed the relative amount of mutant compared with normal SOD1 protein in the erythrocytes from 29 patients with ALS with 22 different mutations. Turnover of mutant SOD1 correlated with a shorter disease survival time.

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    PMID:
    16291929
    [PubMed - indexed for MEDLINE]

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