Typical bulbar ALS can be linked to GARS mutation

Abstract

Background: Amyotrophic lateral sclerosis is the most frequent motor neuron disorders (MND) in adults. The role of genetic factors is worldwide accepted, and currently, more than 30 genes have been linked to this disease. Genetics was also the matter of numerous studies in distal hereditary motor neuropathies (dHMN). GARS is classically linked to a predominant dHMN and, until now, no mutation has been described in GARS in other MND.

Case Report: We report the case of a 70-year-old woman who developed a classical bulbar ALS phenotype. Owing to his familial history of ALS, a genetic screening was performed excluding the main genes linked to ALS and revealing a heterozygous missense mutation in GARS gene with a high probability of pathogenicity.

Conclusion: This first description of mutation in GARS in ALS, extends once more the genetic overlap between ALS and other MND.

Keywords:

• Amyotrophic lateral sclerosis
• GARS
• next-generation sequencing

Declaration of interest

The authors do not declare disclosure in relation with this study.