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Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients' Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus.
Behav Neurol
September 2024
Child Neurology and Psychiatry Unit, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Introduction: AADCd is an ultrarare, underdiagnosed neurometabolic disorder for which a screening test (3-OMD dosing on dried blood spot (DBS)) and targeted gene therapy (authorized in the EU and the UK) are available. Therefore, it is mandatory to raise awareness of presenting symptoms and signs among practitioners. Delivering scientifically sound information to promote screening of patients with the correct cluster of symptoms and signs would be critical.
View Article and Find Full Text PDFHyperkinetic movement disorder in FBXO28-related developmental and epileptic encephalopathy.
Seizure
July 2024
Department of Developmental Neurology, Medical University of Gdansk, ul. Debinki 7, Gdansk 80-952, Poland.
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.
Mol Syndromol
March 2024
Department of Pediatric Neurology, Hacettepe University Hospital, Ankara, Turkey.
Introduction: Sepiapterin reductase deficiency (SRD) is an exceedingly rare neurotransmitter disease caused by an enzyme error involved in the synthesis of tetrahydrobiopterin (BH4). It has been described in nearly 60 cases so far. The clinical manifestations include motor and speech delay, axial hypotonia, dystonia, weakness, oculogyric crises, diurnal fluctuation, and improvement of symptoms during sleep.
View Article and Find Full Text PDFLesion network of oculogyric crises maps to brain dopaminergic transcriptomic signature.
Brain
June 2024
Movement Disorders and Neuromodulation Unit, Department of Neurology with Experimental Neurology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany.
Article Synopsis
- * Researchers analyzed 14 cases of oculogyric crises and identified a shared neural network involved, which includes areas such as the basal ganglia, thalamus, brainstem, and cerebellum.
- * The study found that this network correlates with gene expression for dopamine receptors, specifically DRD2, linking specific brain lesions to the occurrence of oculogyric crises due to D2 receptor blockage.
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