title: Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with a His46Arg mutation in Cu/Zn superoxide dismutase.
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.
authors: Division of Neurology, Department of Internal Medicine, Miyazaki Medical College, 5200 Kihara, Kiyotake-cho, Miyazaki-gun, Miyazaki 889-1692, Japan. Ohi@post1.miyazaki-med.ac.jp
authors: Takekazu
authors: T
authors: Ohi
authors: Kazuko
authors: K
authors: Saita
authors: Shinji
authors: S
authors: Takechi
authors: Kazuki
authors: K
authors: Nabesima
authors: Hirofumi
authors: H
authors: Tashiro
authors: Kazutaka
authors: K
authors: Shiomi
authors: Seiichiro
authors: S
authors: Sugimoto
authors: Tomotoshi
authors: T
authors: Akematsu
authors: Tatsuo
authors: T
authors: Nakayama
authors: Toru
authors: T
authors: Iwaki
authors: Shigeru
authors: S
authors: Matsukura
authors: Kyoko
authors: K
authors: Saita
mesh_terms: D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D020824:Spinocerebellar Tracts / Q000473:pathology; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D013482:Superoxide Dismutase