Cerebrotendinous Xanthomatosis: Understanding Neurological Manifestations Through Physical Exam Video

Background: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage caused by mutations in the CYP27A1 gene, leading to cholesterol and cholestanol accumulation in lipophilic tissues. Neurological symptoms encompass intellectual disability, cognitive impairments, pyramidal signs, progressive ataxia, and dystonia, among others, while non-neurological manifestations include childhood-onset cataracts, tendon xanthomas, and diarrhea. Diagnostic delay, averaging 16 years due to its low prevalence, poses a significant challenge.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Source Type: research