Familial amyotrophic lateral sclerosis with a point mutation (G37R) of the superoxide dismutase 1 gene: a clinicopathological study.
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.
Inoue
Kimiko
K
Department of Neurology, Kasai Municipal Hospital, 1-13, Yokoo, Hojo-cho, Kasai, Hyogo 675-2393, Japan.
Fujimura
Harutoshi
H
Ogawa
Yasuko
Y
Satoh
Tomoharu
T
Shimada
Kennichi
K
Sakoda
Saburo
S
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
C000606290:SOD1 protein, human; D001120:Arginine; C000606291:Sod1 protein, mouse; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1; D005998:Glycine