Cholesterol is an essential component of both the peripheral and central nervous systems of mammals. Over the last decade, evidence has accumulated that disturbances in cholesterol metabolism are associated with the development of various neurological conditions. In addition to genetically defined defects in cholesterol synthesis, which will be covered in another review in this Thematic Series,...

Urine from patients with cerebrotendinous xanthomatosis (CTX) was found to contain a number of minor bile acids along with three major bile acids, 7-epicholic acid, norcholic acid, and cholic acid. The following minor bile acids were identified by combined gas-liquid chromatography-mass spectrometry: 7-ketobisnordeoxycholic acid; 12-ketobisnorchenodeoxycholic acid; 7-ketonordeoxycholic acid; 12...

BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. Neuromuscular abnormality and autonomic system (ANS) dysfuction in CTX are rarely examined in large-scale studies in the literature. We studied the peripheral nervous system, myopathology, and autonomic system of four CTX patients and performed a literature review of the reported CTX patients with peripheral neurop...

Coronary heart disease is a prevalent condition and a leading cause of death in developed countries. Most cases are due to the cluster of classical risk factors, such as smoking, diabetes, high blood pressure and dyslipidaemia. However, a few patients develop severe and premature arteriosclerosis in spite of absence of common risk factors. Here, we present the clinical, analytical and molecular...

Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestations include tendon xanthomas, polyneuropathy, and abnormal neuroimaging. Pathogenic biallelic va...

AIM To assess the specificity and sensitivity of the commonly used enzymatic colorimetric test for plasma cholesterol determination. METHODS Interference with an enzymatic method for cholesterol measurement by several non-cholesterol sterols (beta sitosterol, campesterol, stigmasterol, stigmastanol, desmosterol, and lathosterol) was assessed. Some of these compounds are present in plasma at h...