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http://dx.doi.org/10.1210/jcemcr/luaf153 | DOI Listing |
Neurol Int
July 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Background: Cerebrotendinous Xanthomatosis (CTX) is a rare, inherited metabolic disease caused by pathogenic variants in . The clinical presentation of this progressive disease includes cognitive deficits, ataxia, peripheral neuropathy, and pyramidal signs, as well as bilateral cataracts and tendon xanthomas. In some cases, CTX also includes parkinsonism.
View Article and Find Full Text PDFJ Inherit Metab Dis
September 2025
Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Many inborn errors of metabolism affect pathways involved in the synthesis of a metabolite that has an important biochemical or physiological function, and adverse effects of the disorder can be attributed to the lack of this metabolite. Thus, there is the opportunity for treatment by 'product replacement'. One of the disorders in the pathways for the synthesis of bile acids from cholesterol, 3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency, causes cholestatic liver disease in infancy that can be treated very effectively with chenodeoxycholic acid (CDCA) and/or cholic acid (CA).
View Article and Find Full Text PDFNeurology
September 2025
Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Japan; and.
J Med Case Rep
August 2025
Department of Cardiovascular Medicine, Ina Central Hospital, 1313-1 Koshiroukubo, Ina, Nagano, 396-8555, Japan.
Background: Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder involving bile acid biosynthesis. Reduced mitochondrial cytochrome P450 enzyme activity leads to abnormal lipid accumulation in various tissues, especially tendons, lenses, and the central and peripheral nervous systems. This condition manifests with systemic symptoms such as neurological disorders, atherosclerosis, tendon xanthomas, and cataracts.
View Article and Find Full Text PDFOculomotor deficits are common in hereditary cerebellar ataxias (HCAs) and their quantitative assessment offers a sensitive and reliable manner to capture disease-severity and progression. As a group of experts of the Ataxia Global Initiative to support trial readiness, we previously established harmonized methodology for quantitative oculomotor assessments in HCAs. Here, we aimed to identify to most promising oculomotor/vestibular outcomes as endpoints for future trials.
View Article and Find Full Text PDF