Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 ( MxMD ‐ ADCY5 )

Background Mixed movement disorders linked to ADCY5 (MxMD‐ ADCY5 ) represent a rare hyperkinetic movement disorder resulting from pathogenic variants in ADCY5 . Psychiatric symptoms are suspected to be part of the phenotype. Objective The study aim was to assess psychiatric comorbidities in patients with MxMD‐ ADCY5 . Methods Consecutive patients were assessed with the MINI International Neuropsychiatric Interview (MINI), the shortened Beck Depression Inventory (BDI‐13), the Hospital Anxiety and Depression Scale (HADS), and the Starkstein Apathy Scale (SAS). Results Twenty‐seven patients and 20 controls were included. Psychiatric disorders were present in 67% of patients compared with 15% of controls ( P = 0.00043), mainly anxiety (33% vs. 0%, P = 0.00862) and depression (44% vs. 10%, P = 0.01068). Depression, anxiety, and apathy scores were higher in patients (BDI‐13: 3.67 vs. 1.05, P = 0.004; HA: 6.71 vs. 3.90, P = 0.006; AS: 11.67 vs. 6.85, P = 0.001). Conclusion Depression, anxiety, and apathy are likely part of the phenotypic spectrum of MxMD‐ ADCY5 .