59.: Clinical presentations of C9ORF72 gene associated amotrophic lateral sclerosis

Abstract

This is a review of clinical characteristics of patients and their family tree with amyotrophic lateral sclerosis who are positive for the C9ORF72 gene duplication. Patients with motor neuron disease who were positive for the C9ORF72 gene duplication had their detailed history and family trees reviewed. Two patients were found to have motor neuron disease and the C9ORF72 gene duplication. One patient had a history of multiple sclerosis and the other patient presented with progressive bulbar palsy and a family history suggestive of an anticipation phenomenon. Amyotrophic lateral sclerosis associated with the C9ORF72 gene duplication presents with variable penetrance and variable clinical features. Our patient with both multiple sclerosis and amyotrophic lateral sclerosis supports the link between these two diseases and the C9ORF72 gene duplication.