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Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene |
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| Authors: | Hitoshi Takahashi Takao Makifuchi Ryoichi Nakano Shuzo Sato Takashi Inuzuka Kenji Sakimura Masayoshi Mishina Yoshiaki Honma Shoji Tsuji Fusahiro Ikuta |
| Affiliation: | (1) Brain Research Institute, Department of Pathology, Niigata University, Asahimachi 1, 951 Niigata, Japan;(2) Department of Pathology, Saigata National Hospital, Nakakubiki, Niigata, Japan;(3) Brain Research Institute, Department of Neurology, Niigata University, Niigata, Japan;(4) Brain Research Institute, Department of Neuropharmacology, Niigata University, Niigata, Japan;(5) Department of Neurology, Sado General Hospital, Sado, Niigata, Japan |
| Abstract: | Several missense mutations within exons 1, 2, 4 and 5 of the gene for Cu/Zn-binding superoxide dismutase (SOD1) have been discovered to be involved in the development of chromosome 21q-linked familial amyotrophic lateral sclerosis (FALS). We describe here an autopsied patient with FALS, in whom we have recently identified a novel missense mutation in exon 1 of the SOD1 gene. The neuropathological findings were compatible with those described previously in patients with FALS with posterior column involvement. This suggests that mutations of the SOD1 gene may be responsible for this form of FALS.Supported in part by a research grant for CNS degenerative discases from the Ministry of Health and Welfare, Japan |
| Keywords: | Amyotrophic lateral sclerosis Neuropathology Posterior column involvement Genetics Superoxide dismutase |
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