Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with a His46Arg mutation in Cu/Zn superoxide dismutase

Takekazu Ohi, Kyoko Saita, Shinji Takechi, Kazuki Nabesima, Hirofumi Tashiro, Kazutaka Shiomi, Seiichiro Sugimoto, Tomotoshi Akematsu, Tatsuo Nakayama, Toru Iwaki, Shigeru Matsukura

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Abstract

We examined the characteristic clinical features of one family of familial amyotrophic lateral sclerosis (FALS) with a His46Arg mutation in the enzyme Cu/Zn superoxide dismutase-1 (SOD1). The disease duration for this family was 18.1±13.2 (mean±S.D.) years, with the age at onset being 39.7±10.5 years old (mean±S.D.). The initial sign was distal weakness of the unilateral lower limb, extending to the lower limb of the other side. A wheel chair became necessary at 9.8±3.2 years after the onset. Upper limb weakness started at 15.5±8.9 years following from the onset. An autopsy was performed on a 71-year-old woman of the family with the mutation. Her disease duration was 47 years, and she died of pneumonia. She had no clear upper motor neuron involvement. Bulbar sign and respiratory muscle weakness had developed 2 years before her death. Neuropathological findings showed degeneration of corticospinal tracts, anterior/posterior spinocerebellar tracts, posterior columns, and Clarke's columns. There were few anterior horn cells in the lumbar spinal cord and no Lewy body-like hyaline inclusion bodies in these remaining anterior horn neurons. This is the first autopsy report of FALS with a His46Arg mutation in the SOD1 enzyme.

Original languageEnglish
Pages (from-to)73-78
Number of pages6
JournalJournal of the Neurological Sciences
Volume197
Issue number1-2
DOIs
Publication statusPublished - May 15 2002

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

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    Ohi, T., Saita, K., Takechi, S., Nabesima, K., Tashiro, H., Shiomi, K., Sugimoto, S., Akematsu, T., Nakayama, T., Iwaki, T., & Matsukura, S. (2002). Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with a His46Arg mutation in Cu/Zn superoxide dismutase. Journal of the Neurological Sciences, 197(1-2), 73-78. https://doi.org/10.1016/S0022-510X(02)00054-0