Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease due to
defective activity of the mitochondrial enzyme sterol 27-hydroxylase. In 1991, sterol 27 …

Magnetic resonance imaging is highly sensitive in revealing CNS abnormalities associated
with several neurological conditions, but lacks specificity for their pathological substrates. In …

Background Cerebrotendinous xanthomatosis (CTX) is a rare neurodegenerative disease
related to sterols metabolism. It affects both central and peripheral nervous systems but …

Cerebrotendinous xanthomatosis (CTX) is a metabolic disease characterized by systemic
signs and neurological impairment, which can be prevented if chenodeoxycholic acid …

Abstract Cerebrotendinous xanthomatosis (CTX; OMIM# 213700) is a rare, treatable lipid
storage disease characterized by abnormal deposition of cholestanol and cholesterol in …

In this report, we review the clinical, biochemical, pathophysiologic, and therapeutic aspects
of cerebrotendinous xanthomatosis. We stress the importance of early diagnosis and …

The leukodystrophies comprise an ever-expanding group of rare central nervous system
disorders with defined clinical, pathological, and genetic characteristics. The broader term …

Background Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder. Recent
studies show that brain damage in CTX patients extends beyond the abnormalities observed …

Objective To evaluate, by using quantitative MRI metrics, subtle cortical changes in brains of
patients with the adult form of myotonic dystrophy type I (DM1) who showed no or minimal …

Objective To quantify total and regional brain damage in subjects with cerebrotendinous
xanthomatosis (CTX) using MR based quantitative measures. Background CTX is a rare …