Respiratory onset of amyotrophic lateral sclerosis in a pregnant woman with a novel SOD1 mutation.

ABSTRACT:

Background and purpose

With the advent of gene therapies for amyotrophic lateral sclerosis (ALS), the importance of gene testing in ALS is increasing. This will likely lead to the identification of new variants for which the pathogenicity is not established. We aimed to study the pathogenicity of a newly identified variant in superoxide dismutase 1 (SOD1).

Methods

Gene testing was performed using Sanger sequencing. SOD1 activity in erythrocytes was measured using spectrophotometry. Postmortem brain and spinal cord sections were stained with antibodies against phospho-TDP-43 and SOD1.

Results

We identified a novel c.416G>T (p.Gly139Val) mutation in SOD1, which caused a rapidly progressive respiratory onset form of ALS. The mutation resulted in a 50% drop of SOD1 activi

SUBMITTER: Masrori P 

PROVIDER: S-EPMC9311846 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature