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.

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

Carecchio M.;
2026

Abstract

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.
2026
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/3586343
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