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http://dx.doi.org/10.1136/jnnp.54.7.655 | DOI Listing |
J Vis Exp
December 2024
The David and Inez Myers Laboratory for Cancer Genetics, Department of Human Molecular Genetics and Biochemistry, Faculty of Health and Medical Sciences, School of Medicine, Tel Aviv University;
Cerebellar Purkinje cells (PCs) exhibit a unique interplay of high metabolic rates, specific chromatin architecture, and extensive transcriptional activity, making them particularly vulnerable to DNA damage. This necessitates an efficient DNA damage response (DDR) to prevent cerebellar degeneration, often initiated by PC dysfunction or loss. A notable example is the genome instability syndrome, ataxia-telangiectasia (A-T), marked by progressive PC depletion and cerebellar deterioration.
View Article and Find Full Text PDFThe COVID-19 pandemic and increased demands for neurologists have inspired the creation of remote, digitalized tests of neurological functions. This study investigates two tests from the Neurological Functional Tests Suite (NeuFun-TS) smartphone application, the "Postural Sway" and "Pronator Drift" tests. These tests capture different domains of postural control and motoric dysfunction in healthy volunteers (n=13) and people with neurological disorders (n=68 relapsing-remitting multiple sclerosis [MS]; n=21 secondary progressive MS; n=23 primary progressive MS; n=13 other inflammatory neurological diseases; n=21 non-inflammatory neurological diseases; n=4 clinically isolated syndrome; n=1 radiologically isolated syndrome).
View Article and Find Full Text PDFCureus
December 2024
Treatment Resistant Schizophrenia Outpatient Clinic, Júlio de Matos Hospital, São José Local Health Unit, Clinical Academic Center of Lisbon, Lisbon, PRT.
Primary central nervous system lymphoma (PCNSL) is a diffuse, large B-cell lymphoma affecting the brain, spinal cord, leptomeninges, or eyes. A patient with a recurrence of a previous PCNSL manifesting as an isolated vitreoretinal disease without central nervous system (CNS) involvement and a second cerebral recurrence without vitreoretinal involvement has not yet been reported. The patient is an 86-year-old man with PCNSL of the left cerebellum diagnosed at the age of 82 years and treated with suboccipital trepanation and resection of the lesion followed by chemotherapy.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of Anesthesiology and the Center for Shock, Trauma and Anesthesiology Research (S.T.A.R.), University of Maryland School of Medicine, 685 Baltimore St., Baltimore, MD 21201, USA.
The cerebellum, a key target of ethanol's toxic effects, is associated with ataxia following alcohol consumption. However, the impact of ethanol on Purkinje cell (PC) mitochondria remains unclear. To investigate how ethanol administration affects mitochondrial dynamics in cerebellar Purkinje cells, we employed a transgenic mouse model expressing mitochondria-targeted yellow fluorescent protein in Purkinje cells (PC-mito-eYFP).
View Article and Find Full Text PDFBiochim Biophys Acta Mol Basis Dis
January 2025
Department of Chemical and Biological Engineering, Gachon University, 1342 Seongnam Daero, Seongnam-Si, Gyeonggi-Do 13120, Republic of Korea. Electronic address:
Glioblastoma multiforme (GBM) is a highly malignant subtype of glioma, originating from the glial cells that provide support to other neurons in the brain. GBM predominantly impacts the cerebral hemisphere of the brain, with minimal effects on the cerebellum, brain stem, or spinal cord. Individuals diagnosed with GBM commonly encounter a range of symptoms, starting from auditory abnormalities to seizures.
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