AOA1, caused by mutation of aprataxin (APTX), a gene involved in resolving abortive ligation events that occur during DNA repair (see Fig 1),68 typically presents under the age of 10 and shows elevated levels of cholesterol, low serum albumin, and normal α‐fetoprotein levels, in addition to approximately 50% of patients having intellectual disability and a smaller percentage with co‐enzyme Q10 deficiency.69 The gene discussed is APTX; the disease is Intellectual disability.