A very rare SETX gene variant (c.2750T>C) in a 72-year-old man with amyotrophic lateral sclerosis and an unremarkable family history. Should genetic testing be routinely performed in all patients?

Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative multisystem disease with loss of spinal, bulbar and cortical upper and lower motor neurons resulting in progressive and generalised paralysis.The case presented here describes a very rare variant in the <i>SETX</i> gene (heterozygous Class-4 variant c.2750T>C, p.Met917Thr) in an adult man with sporadic rapidly progressive ALS, with an unremarkable family history.This case demonstrates the relevance of genetic screening for gene variants of ALS in routine diagnostics, both in sporadic and familial cases. This may add to the accuracy of diagnosis and may improve genetic counselling for rare diseases.