All the patients had undergone whole genome sequencing identifying nine individuals with a confirmed genetic ALS-associated mutation, with five C9orf72 cases, two cases carrying the SOD1 (I114T) Scottish founder mutation and two cases with mutations of uncertain significance in the NEK1 gene.23 Seventy-two per cent of cases identified had limb onset disease, 23% had bulbar onset disease and one individual had a combined limb and bulbar onset of disease. The gene discussed is SOD1; the disease is amyotrophic lateral sclerosis.