Browsing by Author "Pereira, Cristina"
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- Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic EraPublication . Baldo, Manuela Schubert; Nogueira, Célia; Pereira, Cristina; Janeiro, Patrícia; Ferreira, Sara; Lourenço, Charles M.; Bandeira, Anabela; Martins, Esmeralda; Magalhães, Marina; Rodrigues, Esmeralda; Santos, Helena; Ferreira, Ana Cristina; Vilarinho, LauraMitochondrial diseases are the most common inherited inborn error of metabolism resulting in deficient ATP generation, due to failure in homeostasis and proper bioenergetics. The most frequent mitochondrial disease manifestation in children is Leigh syndrome (LS), encompassing clinical, neuroradiological, biochemical, and molecular features. It typically affects infants but occurs anytime in life. Considering recent updates, LS clinical presentation has been stretched, and is now named LS spectrum (LSS), including classical LS and Leigh-like presentations. Apart from clinical diagnosis challenges, the molecular characterization also progressed from Sanger techniques to NGS (next-generation sequencing), encompassing analysis of nuclear (nDNA) and mitochondrial DNA (mtDNA). This upgrade resumed steps and favored diagnosis. Hereby, our paper presents molecular and clinical data on a Portuguese cohort of 40 positive cases of LSS. A total of 28 patients presented mutation in mtDNA and 12 in nDNA, with novel mutations identified in a heterogeneous group of genes. The present results contribute to the better knowledge of the molecular basis of LS and expand the clinical spectrum associated with this syndrome.
- A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsiesPublication . Baumgartner, Tobias; Carreño, Mar; Rocamora, Rodrigo; Bisulli, Francesca; Boni, Antonella; Brázdil, Milan; Horak, Ondrej; Craiu, Dana; Pereira, Cristina; Guerrini, Renzo; San Antonio‐Arce, Victoria; Schulze‐Bonhage, Andreas; Zuberi, Sameer M.; Hallböök, Tove; Kalviainen, Reetta; Lagae, Lieven; Nguyen, Sylvie; Quintas, Sofia; Franco, Ana; Cross, J. Helen; Walker, Matthew; Arzimanoglou, Alexis; Rheims, Sylvain; Granata, Tiziana; Canafoglia, Laura; Johannessen Landmark, Cecilie; Sen, Arjune; Rattihalli, Rohini; Nabbout, Rima; Tartara, Elena; Santos, Manuela; Pereira Rangel Pinho, Rui Jorge; Krsek, Pavel; Marusic, Petr; Specchio, Nicola; Braun, Kees P. J.; Smeyers, Patricia; Villanueva, Vicente; Kotulska, Katarzyna; Surges, RainerObjective: Clinical care of rare and complex epilepsies is challenging, because evidence-based treatment guidelines are scarce, the experience of many physicians is limited, and interdisciplinary treatment of comorbidities is required. The pathomechanisms of rare epilepsies are, however, increasingly understood, which potentially fosters novel targeted therapies. The objectives of our survey were to obtain an overview of the clinical practice in European tertiary epilepsy centers treating patients with 5 arbitrarily selected rare epilepsies and to get an estimate of potentially available patients for future studies. Methods: Members of the European Reference Network for rare and complex epilepsies (EpiCARE) were invited to participate in a web-based survey on clinical practice of patients with Dravet syndrome, tuberous sclerosis complex (TSC), autoimmune encephalitis, and progressive myoclonic epilepsies including Unverricht Lundborg and Unverricht-like diseases. A consensus-based questionnaire was generated for each disease. Results: Twenty-six of 30 invited epilepsy centers participated. Cohorts were present in most responding centers for TSC (87%), Dravet syndrome (85%), and autoimmune encephalitis (71%). Patients with TSC and Dravet syndrome represented the largest cohorts in these centers. The antiseizure drug treatments were rather consistent across the centers especially with regard to Dravet syndrome, infantile spasms in TSC, and Unverricht Lundborg / Unverricht-like disease. Available, widely used targeted therapies included everolimus in TSC and immunosuppressive therapies in autoimmune encephalitis. Screening for comorbidities was routinely done, but specific treatment protocols were lacking in most centers. Significance: The survey summarizes the current clinical practice for selected rare epilepsies in tertiary European epilepsy centers and demonstrates consistency as well as heterogeneity in the treatment, underscoring the need for controlled trials and recommendations. The survey also provides estimates for potential participants of clinical trials recruited via EpiCARE, emphasizing the great potential of Reference Networks for future studies to evaluate new targeted therapies and to identify novel biomarkers.