title: Familial amyotrophic lateral sclerosis with Cys111Tyr mutation in Cu/Zn superoxide dismutase showing widespread Lewy body-like hyaline inclusions.
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.
authors.affiliation: Department of Neurology, Teikyo University Chiba Medical Center, Anesaki 3426-3, Ichihara, Chiba 299-0111, Japan.
authors.forename: Megumi
authors.initials: M
authors.lastname: Suzuki
authors.forename: Kanako
authors.initials: K
authors.lastname: Yasui
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Ishikawai
authors.forename: Makoto
authors.initials: M
authors.lastname: Nomura
authors.forename: Takeshi
authors.initials: T
authors.lastname: Watanabe
authors.forename: Hirotsugu
authors.initials: H
authors.lastname: Mikami
authors.forename: Takahiko
authors.initials: T
authors.lastname: Yamano
authors.forename: Seiitsu
authors.initials: S
authors.lastname: Ono
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology*; D001921:Brain / Q000473:pathology; D006801:Humans; D006818:Hyalin / Q000166:cytology*; D016631:Lewy Bodies / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D009474:Neurons / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1