Information Theory Analysis of CTX Shows Consistent Clinical Presentation.

ABSTRACT: Cerebrotendinous xanthomatosis (CTX) is a rare, metabolic disorder caused by pathogenic variants in CYP27A1. The classic clinical presentation includes infantile-onset chronic diarrhea, juvenile-onset bilateral cataracts, with development of tendon xanthomas and progressive neurological dysfunction. These multisystem clinical features typically appear in different decades of life often confounding diagnosis of CTX. Further complicating diagnosis is the generally held belief that the clinical presentation of CTX varies highly between individuals and even within families. We applied information theory analyses to CTX patient data to quantitatively assess clinical variability in CTX. We conducted a systematic review of the literature to identify all CTX families reported with CYP27A1 genotype

SUBMITTER: Hanson J 

PROVIDER: S-EPMC12541572 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature