This review is an account of developments in the field of transgenic and gene targeting approaches with special emphasis on the cerebellar Purkinje cell. A critical discussion of the available genetic tools is provided. As genetic engineering of the mouse is still a rapidly moving field, we felt it appropriate to include some ideas on novel strategies for refined genetic manipulations.
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http://dx.doi.org/10.1080/147342202753671240 | DOI Listing |
STAR 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 PDFBackground: 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 PDFJ Clin Med
January 2025
Department of Clinical Therapeutics, Alexandra General Hospital, School of Medicine, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Paraneoplastic cerebellar degeneration (PCD) is an inflammatory autoimmune process caused by onconeural antibodies directed against cerebellar Purkinje cells. In most cases, prognosis is poor as disease progression leads to pancerebellar dysfunction and permanent neurological damage. Through this case report, we aim to highlight the clinical presentation, diagnostic process, and therapeutic implications associated with PCD secondary to SCLC.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Department of Neuroregeneration, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Meibergdreef 47, 1105 BA Amsterdam, The Netherlands.
Semaphorin 3A (Sema3A) is an axon guidance molecule, which is also abundant in the adult central nervous system (CNS), particularly in perineuronal nets (PNNs). PNNs are extracellular matrix structures that restrict plasticity. The cellular sources of Sema3A in PNNs are unknown.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Laboratory of Neuronal Plasticity and Neurorepair, Institute of Neuroscience of Castile and Leon (INCyL), Universidad de Salamanca, 37007 Salamanca, Spain.
In recent decades, the scientific community has faced a major challenge in the search for new therapies that can slow down or alleviate the process of neuronal death that accompanies neurodegenerative diseases. This study aimed to identify an effective therapy using neurotrophic factors to delay the rapid and aggressive cerebellar degeneration experienced by the Purkinje Cell Degeneration (PCD) mouse, a model of childhood-onset neurodegeneration with cerebellar atrophy (CONDCA). Initially, we analyzed the changes in the expression of several neurotrophic factors related to the degenerative process itself, identifying changes in insulin-like growth factor 1 (IGF-1) and Vascular Endothelial Growth Factor B (VEGF-B) in the affected animals.
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