title: Familial amyotrophic lateral sclerosis with a point mutation (G37R) of the superoxide dismutase 1 gene: a clinicopathological study.
abstract: A familial amyotrophic lateral sclerosis (FALS) patient with G37R mutation of superoxide dismutase 1 (SOD1) gene revealed an early onset and relatively slow progression. Neuropathological examination of this patient showed widespread neuronal degeneration extending to overall length of the spinal cord and the brainstem with extremely rare Lewy body-like inclusions (LBI), while there were no vacuoles in neurons, a characteristic feature in transgenic mice expressing G37R SOD1 mutation.
authors.affiliation: Department of Neurology, Kasai Municipal Hospital, 1-13, Yokoo, Hojo-cho, Kasai, Hyogo 675-2393, Japan.
authors.forename: Kimiko
authors.initials: K
authors.lastname: Inoue
authors.forename: Harutoshi
authors.initials: H
authors.lastname: Fujimura
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Ogawa
authors.forename: Tomoharu
authors.initials: T
authors.lastname: Satoh
authors.forename: Kennichi
authors.initials: K
authors.lastname: Shimada
authors.forename: Saburo
authors.initials: S
authors.lastname: Sakoda
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D001120:Arginine / Q000235:genetics*; D001933:Brain Stem / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons; D005998:Glycine / Q000235:genetics*; D006801:Humans; D020961:Lewy Body Disease / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D013116:Spinal Cord / Q000473:pathology; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D001120:Arginine; C000606291:Sod1 protein, mouse; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1; D005998:Glycine