Electrophysiological studies in cerebrotendinous xanthomatosis.

Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report

Cerebrotendinous xanthomatosis is a rare autosomal recessive disease that involves multiple organs, including the peripheral nervous system. The present study is the first to report the ultrasonographic findings of peripheral nerves in a patient with cerebrotendinous xanthomatosis. The patient presented with bilateral Achilles tendon enlargement and foot hypesthesia. Sonographic examination rev...

Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease leading to a progressive multisystem disease. CTX with autosomal recessive inheritance is caused by a defect in the CYP27A1 gene. Hallmark clinical manifestations of CTX include bilateral cataracts, chronic diarrhea, tendon xanthomas, and neurologic dysfunction. CTX is a rare disorder, which is supposed to be under-diag...

Cholestanol Metabolism in Patients with Cerebrotendinous Xanthomatosis: Absorption, Turnover, Tissue Deposition and Clues to Pathological Consequences

Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia.

Cerebrotendinous xanthomatosis is an exceptionally rare condition in Indian subcontinent, however, it is potentially treatable if diagnosed. We present and discuss the clinical presentation and investigations in a case of cerebrotendinous xanthomatosis (CTX).

Cerebrotendinous xanthomatosis: a treatable hereditary neuro‐metabolic disease

Cerebrotendinous xanthomatosis is a rare autosomal recessive hereditary disease that is caused by a mutation in the gene encoding the mitochondrial enzyme sterol 27hydroxylase (CYP27). The CYP27 gene is located on chromosome 2q35-qter and is responsible for the conversion of cholesterol into cholic and chenodeoxycholic acid. Cerebrotendinous xanthomatosis results in increased levels of serum ch...