Deep brain stimulation in patients with mixed movement disorders linked to ADCY5

GPi-DBS can be considered as a relevant therapeutic option for MxMD-ADCY5 in case of pharmacological treatment failure both in patients with chronic motor impairment and those with paroxysmal exacerbations meeting criteria for SAME. Given the response to DBS in the two groups of patients, it is plausible that MxMD-ADCY5 reflects basal ganglia dysfunction mediated by dysregulated cAMP signalling, and that DBS acts by restoring homeostatic inhibitory control in these circuits.

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Publication Details

Journal
Revue Neurologique
Published
2025-12-26
DOI
https://doi.org/10.1016/j.neurol.2025.12.003
Primary Topic
Neurological disorders and treatments
Type
article
Field-Weighted Citation Impact
0.00
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article

Deep brain stimulation in patients with mixed movement disorders linked to ADCY5

M.-A. L. Spitz, N. Dorison, C. Ravelli, J. Baik et al.
Revue Neurologique
Neurological disorders and treatments
article

Deep brain stimulation in patients with mixed movement disorders linked to ADCY5

M.-A. L. Spitz, N. Dorison, C. Ravelli, J. Baik, P. Vayssière, C. Nilles, M.-C. François-Heude, E. Retailleau, E. Chauvet-Piat, E. Conabady, O. Trouillard, C. Desjardins, G. Poulen, A. Roubertie, E. Roze, C. Dubacq
article en

Abstract

GPi-DBS can be considered as a relevant therapeutic option for MxMD-ADCY5 in case of pharmacological treatment failure both in patients with chronic motor impairment and those with paroxysmal exacerbations meeting criteria for SAME. Given the response to DBS in the two groups of patients, it is plausible that MxMD-ADCY5 reflects basal ganglia dysfunction mediated by dysregulated cAMP signalling, and that DBS acts by restoring homeostatic inhibitory control in these circuits.

Revue NeurologiqueVol. 182(3)
Centre National de la Recherche Scientifique (FR), Inserm (FR), Sorbonne Université (FR), Hôpital Armand-Trousseau (FR), Centre Hospitalier Universitaire de Montpellier (FR), Hôpital Beau-Séjour (CH), Assistance Publique – Hôpitaux de Paris (FR), Fondation Ophtalmologique Adolphe de Rothschild (FR), Hôpitaux Universitaires de Strasbourg (FR), Institut du Cerveau (FR), Hôpital Civil, Strasbourg (FR)
Good health and well-being
Openalex Percentile: Top 31%
Neurological disorders and treatments
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