Although compound-heterozygosity for the detected variants in GBE1 in pat #38 is not proven, we speculate that both variants might be at least concurrently causative, especially as the patient revealed UMN-dominant ALS, cognitive impairment, and progressive non-fluent aphasia (PNFA) upon his last clinical examination in 2012. Here, GBE1 is linked to amyotrophic lateral sclerosis.