Intraputaminal Gene Delivery in Two Patients with Aromatic L‐Amino Acid Decarboxylase Deficiency - Institut du Cerveau et de la Moëlle Epinière Accéder directement au contenu
Article Dans Une Revue Movement Disorders Clinical Practice Année : 2023

Intraputaminal Gene Delivery in Two Patients with Aromatic L‐Amino Acid Decarboxylase Deficiency

Résumé

Background: Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, early-onset, dyskinetic encephalopathy mostly reflecting a defective synthesis of brain dopamine and serotonin. Intracerebral gene delivery (GD) provided a significant improvement among AADCD patients (mean age, ≤6 years). Objective: We describe the clinical, biological, and imaging evolution of two AADCD patients ages >10 years after GD. Methods: Eladocagene exuparvovec, a recombinant adeno-associated virus containing the human complimentary DNA encoding the AADC enzyme, was administered into bilateral putamen by stereotactic surgery. Results: Eighteen months after GD, patients showed improvement in motor, cognitive and behavioral function, and in quality of life. Cerebral l-6-[18F] fluoro-3, 4-dihydroxyphenylalanine uptake was increased at 1 month, persisting at 1 year compared to baseline. Conclusion: Two patients with a severe form of AADCD had an objective motor and non-motor benefit from eladocagene exuparvovec injection even when treated after the age of 10 years, as in the seminal study.
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Origine : Publication financée par une institution
licence : CC BY - Paternité

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hal-04101510 , version 1 (02-06-2023)

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Marie‐céline François-Heude, Gaetan Poulen, Emmanuel Flamand Roze, Marie‐ange Nguyen Morel, Domitille Gras, et al.. Intraputaminal Gene Delivery in Two Patients with Aromatic L‐Amino Acid Decarboxylase Deficiency. Movement Disorders Clinical Practice, 2023, 10 (5), pp.811-818. ⟨10.1002/mdc3.13685⟩. ⟨hal-04101510⟩
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