Novel G37V mutation of SOD1 gene in autopsied patient with familial amyotrophic lateral sclerosis.
We report a novel missense mutation (G37V) in exon 2 of the superoxide dismutase-1 gene in a 63-years-old Japanese male with purely lower motor neuron disease. His disease duration was 14 months, and he died of respiratory failure. The disease in this patient with the G37V mutation showed a rapid progression, although patients with G37R mutation are known to have a long survival.
Department of Neurology, Tokyo Metropolitan Neurological Hospital, Japan.
Junpei
J
Kobayashi
Masatoshi
M
Kuroda
Akihiro
A
Kawata
Yoko
Y
Mochizuki
Toshio
T
Mizutani
Takashi
T
Komori
Takeshi
T
Ikeuchi
Reiji
R
Koide
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology; D044466:Asian People; D001344:Autopsy / Q000379:methods; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D016900:Neurofilament Proteins / Q000378:metabolism; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D014633:Valine / Q000235:genetics*
D016900:Neurofilament Proteins; C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1; D014633:Valine; D005998:Glycine