We selected FUSH517D, which leads to the classic FUS-ALS phenotype with neck or proximal upper limb weakness as the first symptom.17 This mutation replaces the basic amino acid histidine in the NLS with the acidic amino acid aspartic acid, resulting in a large charge change and conformational change that is expected to produce prominent phenotypes. The gene discussed is FUS; the disease is amyotrophic lateral sclerosis.