The analysis of pathogenic mutations found in the TARDBP gene sequence of 46 Australian patients of European descent affected by sporadic Amyotrophic Lateral Sclerosis (sALS) has revealed two promoter variants (c.1-562t>c and c.1-100t>c) with a different frequency in patients than in controls (115 neurologically normal people or HapMap European and Sub-Saharan African cohorts)52. The gene discussed is TARDBP; the disease is amyotrophic lateral sclerosis.