Two wild fledgling kestrels exhibited lack of motor coordination, postural reaction deficits, and abnormal propioception. At necropsy, the cerebellum and brainstem were markedly underdeveloped. Microscopically, there was Purkinje cells heterotopy, abnormal circuitry, and hypoplasia with defective foliation. Heterotopic neurons were identified as immature Purkinje cells by their size, location, immunoreactivity for calbindin D-28 K, and ultrastructural features. The authors suggest that this cerebellar abnormality was likely due to a disruption of molecular mechanisms that dictate Purkinje cell migration, placement, and maturation in early embryonic development. The etiology of this condition remains undetermined. Congenital central nervous system disorders have rarely been reported in birds.
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http://dx.doi.org/10.1177/0300985812442690 | DOI Listing |
Mol Biol Cell
January 2025
Department of Cell Biology, Emory University, 615 Michael St, Atlanta, GA, USA, 30322.
Rare inherited diseases caused by mutations in the copper transporters (CTR1) or induce copper deficiency in the brain, causing seizures and neurodegeneration in infancy through poorly understood mechanisms. Here, we used multiple model systems to characterize the molecular mechanisms by which neuronal cells respond to copper deficiency. Targeted deletion of CTR1 in neuroblastoma cells produced copper deficiency that produced a metabolic shift favoring glycolysis over oxidative phosphorylation.
View Article and Find Full Text PDFFront Immunol
January 2025
First Department of Pediatrics, Weifang People's Hospital Affiliated to Shandong Second Medical University, Weifang, China.
Autoimmune cerebellar ataxia (ACA) is a cerebellar syndrome induced by autoimmune reactions and its onset is induced by malignant tumors, prodromic infection, and gluten allergy. Its clinical symptoms include gait disorder, limb ataxia, dysarthria, and dysphagia. According to , the diagnosis of ACA is based on the following points: 1.
View Article and Find Full Text PDFSTAR Protoc
January 2025
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA; Initiative for Columbia Ataxia and Tremor, Columbia University, New York, NY 10032, USA. Electronic address:
As Purkinje cells of the cerebellum have a very fast firing rate, techniques with high temporal resolution are required to capture cerebellar physiology. Here, we present a protocol to record physiological signals in humans using cerebellar electroencephalography (cEEG). We describe steps for electrode placement and recording.
View Article and Find Full Text PDFbioRxiv
January 2025
Department of Neurology, University of Utah, Salt Lake City, UT 84112, USA.
Background: Christianson syndrome (CS) is an x-linked recessive neurodevelopmental and neurodegenerative condition characterized by severe intellectual disability, cerebellar degeneration, ataxia, and epilepsy. Mutations to the gene encoding NHE6 are responsible for CS, and we recently demonstrated that a mutation to the rat gene causes a similar phenotype in the spontaneous rat model, which exhibits cerebellar degeneration with motor dysfunction. In previous work, we used the PhP.
View Article and Find Full Text PDFCureus
December 2024
Neurology, SRM Medical College Hospital and Research Centre, SRM Institute of Science and Technology, Chengalpattu, IND.
Introduction: This study discusses the various clinical profiles, investigatory findings, treatment responses, and prognosticating factors in seven cases of autoimmune encephalitis (AE).
Methods: The clinical records of seven AE patients admitted to the Neurology Department, SRM Medical College Hospital and Research Centre, Chennai, from July 2022 to December 2023 were retrospectively analyzed.
Results: The patients' ages ranged from 18 to 35, and all experienced seizures.
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