Publications by authors named "N A Shor"
Background: Currently, there are no available recommendations or guidelines on how to perform MRI monitoring in the management of neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). The issue is to determine a valuable MRI monitoring protocol to be applied in the management of NMOSD and MOGAD, as previously proposed for the monitoring of multiple sclerosis.
Objectives: The objectives of this work are to establish proposals for a standardized and feasible MRI acquisition protocol, and to propose control time points for systematic MRI monitoring in the management of NMOSD and MOGAD.
Article Synopsis
- Langerhans cell Histiocytosis (LCH) and Erdheim-Chester disease (ECD) are linked to certain genetic mutations and pose a heightened risk for neurodegeneration, revealing microglia mutant clones in patients' brains.
- These mutant clones lead to symptoms like microgliosis and neuronal loss, notably affecting specific brain regions, with symptoms correlating to the disease's duration and the size of these clones.
- Research suggests that targeting these mutant microglia with a CSF1R-inhibitor could prevent neuronal loss, presenting a potential new treatment option distinct from current MAPK inhibitors.
Cerebrotendinous xanthomatosis is a rare and treatable metabolic disorder related to the accumulation of cholestanol. This disorder is primarily associated with motor and cognitive impairments, although the latter has not been extensively characterized. The objectives of this work were to define the cognitive profile found in cerebrotendinous xanthomatosis patients, investigate the progression of cognitive impairment over time, and search for radio-clinical correlations.
View Article and Find Full Text PDFBackground: Erdheim-Chester disease (ECD) is a rare histiocytosis that may overlap with Langerhans Cell Histiocytosis (LCH). This "mixed" entity is poorly characterized. We here investigated the clinical phenotype, outcome, and prognostic factors of a large cohort of patients with mixed ECD-LCH.
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