| Direct cholestanol toxicity | Cholestanol incorporation into neuronal membranes alters membrane fluidity, disrupts lipid raft organization, and impairs synaptic transmission and dendritic spine morphology . |
| Myelin damage | Cholestanol replaces cholesterol in myelin sheaths, destabilizing myelin structure and causing progressive demyelination, particularly in the cerebellar white matter and corticospinal tracts . |
| neuroinflammation | Abnormal oxysterol profiles activate microglia/cell-types/microglia inflammatory responses, contributing to secondary neuronal damage through neuroinflammatory mechanisms link. |
| apoptosis | Bile acid intermediates (7α-hydroxycholesterol, 7α-hydroxy-4-cholesten-3-one) are cytotoxic and promote apoptotic neuronal death through mitochondrial membrane permeabilization . |
| Neonatal cholestasis | Present in some cases, occasionally severe enough to mimic biliary atresia |
| Chronic diarrhea | Often the earliest symptom, beginning in infancy; caused by bile acid malabsorption and frequently misdiagnosed as irritable bowel syndrome or food intolerance |
| Bilateral cataracts | Juvenile-onset cataracts, typically diagnosed between ages 5–15 years; an important diagnostic clue, as idiopathic bilateral cataracts in young patients should prompt CTX screening |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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