Novel G37V mutation of SOD1 gene in autopsied patient with familial amyotrophic lateral sclerosis

Abstract

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.

Key words::

• Amyotrophic lateral sclerosis
• SOD1
• G37V

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.