Afficher la couverture 'Intraputaminal Gene Delivery in Two Patients with Aromatic L‐Amino Acid Decarboxylase Deficiency | François-Heude, Marie‐céline' en grand format
/5

0 avis

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

Archive ouverte

François-Heude, Marie‐céline | Poulen, Gaetan | Flamand Roze, Emmanuel | Nguyen Morel, Marie‐ange | Gras, Domitille | Roch-Toreilles, Isabelle | Quintard, Adeline | Baroux, Gaelle | Meyer, Pierre | Coubes, Philippe | Milesi, Christophe | Cambonie, Gilles | Baleine, Julien | Sola, Chrystelle | Delye, Bénédicte | Dimopoulou, Evgenia | Sanchez, Stéphanie | Gasnier, Mathieu | Touati, Souad | Zamora, Alberto | Pontal, Daniel | Leboucq, Nicolas | Kouyoumdjian, Virginie | Lebasnier, Adrien | Sanquer, Sylvia | Mariano-Goulart, Denis | Roujeau, Thomas | Roubertie, Agathe

Edité par CCSD ; Wiley -

International audience. 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.

Suggestions

Du même auteur

KCNMA1‐Related Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical Reappraisal

Archive ouverte | Roze, Emmanuel | CCSD

International audience. Abstract Background KCNMA1 ‐linked channelopathy is characterized by neurodevelopmental disorder, epileptic seizures and non‐epileptic paroxysmal episodes. Objectives To describe the phenotyp...

Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

Archive ouverte | Baide-Mairena, Heidy | CCSD

International audience. We present the phenotype of an infant with the largest ATN1 CAG expansion reported to date (98 repeats). He presented at 4 months with developmental delay, poor eye contact, acquired microcep...

KMT2B -related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Archive ouverte | Cif, Laura | CCSD

International audience. Abstract Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor feature...

Chargement des enrichissements...