Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis.

ABSTRACT:

Background

Cerebrotendinous Xanthomatosis (CTX) is a rare, inherited metabolic disease caused by pathogenic variants in CYP27A1. The clinical presentation of this progressive disease includes cognitive deficits, ataxia, peripheral neuropathy, and pyramidal signs, as well as bilateral cataracts and tendon xanthomas. In some cases, CTX also includes parkinsonism. The goals of this study are to develop a data source that provides improved characterization and awareness of parkinsonism in CTX.

Methods

We conducted a systematic review of the literature according to PRISMA guidelines to identify all published individuals diagnosed with CTX and parkinsonism. Clinical signs, imaging findings and treatment response to both chenodeoxycholic acid and dopaminergic medications wer

SUBMITTER: Hanson J 

PROVIDER: S-EPMC12389545 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature