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As seen in: Wiley Online Library, Oxford Academic, Oxford University Press (OUP), Frontiers, Cell Press, EBioMedicine, EClinicalMedicine, Neurology
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Articles

Safety and efficacy of leriglitazone in childhood cerebral adrenoleukodystrophy (NEXUS): an interim analysis of an open-label, phase 2/3 trial

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By Neurometabolic Unit, Institut de Recerca, Caroline Sevin, Le Kremlin Bicêtre
| EClinicalMedicine Verified
Keywords Cerebral adrenoleukodystrophy Paediatric adrenoleukodystrophy PPARγ agonist Evidence before this study We searched PubMed from inception to September 1, 2023, using the terms ‘adrenoleukodystrophy’ AND (‘treatment’ OR ‘therapy’ OR ‘drug’) AND (‘clinical trial’ OR ‘trial’ OR ‘randomised’).
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Anti‐GAD65 musicogenic epilepsy: Bilateral and independent mesial temporal seizures revealed by foramen ovale electrodes

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By Roberta Di Giacomo, Neurometabolic Unit, Vadym Gnatkovsky, Giulia Maccanti
| Wiley Online Library Verified
Musicogenic epilepsy (ME) is characterized by seizures triggered by music. The epileptogenic focus is often located in the temporal lobe, although its precise localization remains unclear. Foramen ovale electrodes revealed bilateral and independent seizure onsets in the mesial temporal regions in a patient with ME and GAD65 antibodies. A correlation between ME and GAD65 antibodies suggests a potential immunological pathogenic mechanism.
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Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome

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By Luis Carlos, Dokuz Eylul, Neurogenetics Unit, Neurometabolic Unit
| Oxford Academic Verified
Primary mitochondrial diseases (PMDs) are among the most common inherited neurological disorders. They are caused by pathogenic variants in mitochondrial or nuclear DNA that disrupt mitochondrial structure and/or function, leading to impaired oxidative phosphorylation (OXPHOS). One emerging subcategory of PMDs involves defective phospholipid (PL) metabolism.
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