SOD1 mutations are the second most common cause of familial amyotrophic lateral sclerosis worldwide after the C9orf72 hexanucleotide expansion mutation. Some SOD1 mutations cause atypical phenotypes with slow progression, reduced penetrance or a purely lower motor neuron disease. Most mutations show autosomal dominant inheritance, but recessive inheritance has also been described and indeed the atypical ALS caused by homozygous p.D91A mutations is the most common form of SOD1 ALS in Finland. The phenotype caused by the SOD1 mutation p.A90V has only been reported in a few individuals thus far.

Read More...

Leave a comment.

Your email address will not be published. Required fields are marked*

Andoird App
Loading...