Mutation in the CYLD gene is a cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). CYLD activity causes a reduction in autophagy; this suggests that it may play a central role in autophagy pathways contributing to the pathogenesis of FTD-ALS.
Why this matters
Approximately 15% of individuals diagnosed with FTD also develop ALS. Several gene mutations, some functionally implicated in autophagy, have been identified as causes of both FTD and ALS. Understanding how CYLD mutations can cause FTD-ALS can help in diagnosis and treatment of these disorders.