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Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD-ADCY5)
Aurélie Méneret1,2, Clément Tarrano2,3, Asya Ekmen2
1Department of Neurology, DMU Neurosciences, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
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. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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