Acute cerebellar syndrome can be caused by high doses of cytarabine, but it has not been described in patients with acute lymphoblastic leukemia (ALL) who received hyper-CVAD chemotherapy. Herein, we report two cases with histories of positive Philadelphia chromosome B-cell ALL who developed acute cerebellar syndrome after the exposure to relatively low doses of cytarabine in the second cycle of hyper-CVAD regimen. The cerebellar symptoms were attenuated by cytarabine discontinuation and administration of steroids. This case report provides detailed discussions on the treatments, the potential role of methotrexate in cytarabine-induced cerebellar syndrome, and the importance of carefully monitoring renal function during hyper-CVAD treatment.
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http://dx.doi.org/10.1159/000468921 | DOI Listing |
Tissue Cell
January 2025
Human Anatomy & Embryology Department, Faculty of Medicine, Zagazig University, Egypt.
Toxic-induced cerebellar syndrome (TOICS) poses substantial neurological challenges, given its diverse causes and complex manifestations. Gold nanoparticles (AuNPs) have gained significant attention owing to enhanced biocompatibility for therapeutic interventions. We aimed to investigate the impacts of AuNPs on cerebellar cytomolecular, immunohistochemical and ultrastructural alterations in the context of phenytoin-experimentally induced TOICS.
View Article and Find Full Text PDFTher Adv Respir Dis
January 2025
Division of Pulmonary and Sleep Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, 4800 Sand Point Way NE, OC 7.730, Seattle, WA 98105, USA.
Background: Joubert syndrome (JS) is an autosomal recessive disorder with a distinctive mid-hindbrain malformation known as the "molar tooth sign" which involves the breathing control center and its connections with other structures. Literature has reported significant respiratory abnormalities which included hyperpnea interspersed with apneic episodes during wakefulness. Larger-scale studies looking at polysomnographic findings or subjective reports of sleep problems in this population have not yet been published.
View Article and Find Full Text PDFNat Metab
January 2025
CECAD Excellence Center, University of Cologne, Cologne, Germany.
Dysfunctions in autophagy, a cellular mechanism for breaking down components within lysosomes, often lead to neurodegeneration. The specific mechanisms underlying neuronal vulnerability due to autophagy dysfunction remain elusive. Here we show that autophagy contributes to cerebellar Purkinje cell (PC) survival by safeguarding their glycolytic activity.
View Article and Find Full Text PDFCerebellum
January 2025
Institute of Cognitive Science Marc Jeannerod, CNRS/UMR 5229, 69500, Bron, France.
While the cerebellum's role in orchestrating motor execution and routines is well established, its functional role in supporting cognition is less clear. Previous studies claim that motricity and cognition are mapped in different areas of the cerebellar cortex, with an anterior/posterior dichotomy. However, most of the studies supporting this claim either use correlational methods (neuroimaging) or are lesion studies that did not consider central covariates (such as age, gender, treatment presence, and deep nuclei impairment) known to influence motor and cognitive recoveries in patients.
View Article and Find Full Text PDFJ Neurol
January 2025
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.
Study Design: This is a retrospective, cross-sectional, descriptive study conducted at a single Italian adult neurogenetic outpatient clinic, in 147 patients affected by ataxia with a suspicion of hereditary forms, recruited from November 1999 to February 2024. A stepwise approach for molecular diagnostics was applied: targeted gene panel (TP) next-generation sequencing (NGS) and/or clinical exome sequencing (CES) were performed in the case of inconclusive first-line genetic testing, such as short tandem repeat expansions (TREs) testing for most common spinocerebellar ataxias (SCA1-3, 6-8,12,17, DRPLA), other forms [Fragile X-associated tremor/ataxia syndrome (FXTAS), Friedreich ataxia (FRDA) and mitochondrial DNA-related ataxia, RFC1-related ataxia/CANVAS] or inconclusive phenotype-guided specific single gene sequencing.
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