In a previous report, a variant in a location other than COL4A1 3′UTR was identified to be causative of hereditary multi-infarct dementia of the Swedish type, which was characterized by cognitive impairment, depressive illness and behavioural symptoms, including mood changes.21,22 These symptoms can also be observed among patients with PADMAL,6 with two of our patients exhibiting cognitive dysfunction and mood disturbance as the disease progressed. Here, COL4A1 is linked to Abnormal emotional state.