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- W4312173208 abstract "Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene. This bile acid metabolism disorder represents a key potentially treatable neurogenetic condition due to the wide spectrum of neurological presentations in which it most commonly occurs. Cerebellar ataxia, peripheral neuropathy, spastic paraparesis, epilepsy, parkinsonism, cognitive decline, intellectual disability, and neuropsychiatric disturbances represent some of the most common neurological signs observed in this condition. Despite representing key features to increase diagnostic index suspicion, multisystemic involvement does not represent an obligatory feature and can also be under evaluated during diagnostic work-up. Chenodeoxycholic acid represents a well-known successful therapy for this inherited metabolic disease, however its unavailability in several contexts, high costs and common use in patients at late stages of disease course limit more favorable neurological outcomes for most individuals. This review article aims to discuss and highlight the most recent and updated knowledge regarding clinical, pathophysiological, neuroimaging, genetic and therapeutic aspects related to Cerebrotendinous Xanthomatosis." @default.
- W4312173208 created "2023-01-04" @default.
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- W4312173208 date "2022-12-23" @default.
- W4312173208 modified "2023-10-15" @default.
- W4312173208 title "Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment" @default.
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- W4312173208 doi "https://doi.org/10.3389/fneur.2022.1049850" @default.
- W4312173208 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36619921" @default.
- W4312173208 hasPublicationYear "2022" @default.
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