Adrenoleukodystrophy (ALD)
https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-025-04449-1
Adult-onset X-linked adrenoleukodystrophy (ALD) is a rare inherited condition that affects the brain, spinal cord and adrenal glands. In ALD, the body cannot properly break down very long-chain fatty acids (VLCFAs), which then build up and damage the nervous system. In this article, researchers studied seven Chinese men diagnosed with adult-onset ALD (aged 17-46 years). Two patients were diagnosed with adult cerebral ALD (ACALD) presenting cognitive impairment, behavioural and psychological symptoms. One had adrenomyeloneuropathy (AMN) with progressive leg stiffness and weakness. The remaining four were diagnosed with the spinocerebellar variant, characterised by movement and coordination difficulties. All seven individuals had high levels of VLCFA, and most showed (6/7) symptom-free mild hormonal changes, suggesting subclinical adrenal gland dysfunction. Genetic testing revealed six pathogenic variants, including two newly discovered genetic mutations. This study highlights the variable presentations of adult-onset ALD, though elevated VLCFA appears as a reliable marker of the disease. The study also suggests that ALD screening should be considered in male patients diagnosed with Addison’s disease (adrenal failure). Early diagnosis of ALD has important implications in improving care and symptom management.