The recent observations broaden the spectrum of clinical phenotypes associated with C9orf72 and suggest the existence of a novel C9orf72-positive ALS-parkinsonism (case 2) nosological entity [58] that may be driven by an increased lesion load in extramotor areas, including the nigrostriatal system [59]. The gene discussed is C9orf72; the disease is amyotrophic lateral sclerosis.