Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.

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

SUBMITTER: Nobrega PR 

PROVIDER: S-EPMC9816572 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature