Four patients had a non-prion genetic cause for their disorder, two carrying hexanucleotide expansions in the C9orf72 gene, one CSF1R mutation (A781V) and one had a combination of beta thalassaemia major and alkaptonuria with a cognitive disorder that improved following withdrawal of nitisinone treatment.12 The gene discussed is C9orf72; the disease is Cognitive impairment.