A few days after a seafood meal a patient suffered ataxia and stupor. His examination revealed a confused patient with cerebellar signs and ocular disturbances (hypotropia). Blood results, cerebrospinal fluid and brain CT scan were unremarkable. The patient developed a septic shock and died 4 weeks after admission. No necropsy was performed. Questioning his family confirmed that he had eaten a shellfish meal a few hours before onset of the digestive signs. Trocas (Tectus pyramis) were definitely identified. The clinical picture strongly suggested a seafood poisoning, namely ciguatera. However, no toxicologic assay was performed. To our knowledge, this poisoning has never been reported with trocas. Nevertheless, the feeding habits of trocas would suggest similarity with ciguatera poisoning.
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Neurol Neuroimmunol Neuroinflamm
March 2025
MeLis Institute, SynatAc Team, Inserm U1314/ UMR CNRS5284, France.
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Section of Neurorehabilitation, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
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Section on Medical Neuroendocrinology National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, 20892, MD, USA.
Head and neck paragangliomas (HNPGLs) are typically slow-growing, hormonally inactive tumors of parasympathetic paraganglia. Inactivation of prolyl-hydroxylase domain-containing 2 protein causing indirect gain-of-function of hypoxia-inducible factor-2α (HIF-2α), encoded by EPAS1, was recently shown to cause carotid body hyperplasia. We previously described a syndrome with multiple sympathetic paragangliomas caused by direct gain-of-function variants in EPAS1 (Pacak-Zhuang syndrome, PZS) and developed a corresponding mouse model.
View Article and Find Full Text PDFJ Neurol
January 2025
Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.
Introduction: The MAPT gene encodes Tau, a protein mainly expressed by neurons. Tau protein plays an important role in cerebral microtubule polymerization and stabilization, in axonal transport and synaptic plasticity. Heterozygous pathogenic variation in MAPT are involved in a spectrum of autosomal dominant neurodegenerative diseases known as taupathies, including Alzheimer's disease, Pick's disease, fronto-temporal dementia, cortico-basal degeneration and progressive supranuclear palsy.
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