摘要: Abstract X-linked adrenoleukodystrophy (X-ALD) is the most common leukodystrophy and frequent peroxisomal disorder, with an estimated incidence of 1:17,000. This complex neurodegenerative disorder characterized by a huge clinical variability both in age onset symptoms. The two main forms are childhood cerebral ALD (ccALD) inflammatory demyelination central nervous system, adult form called adrenomyeloneuropathy (AMN), non-inflammatory slowly progressive affecting spinal cord peripheral nerves. Adrenal insufficiency usually associated symptoms, X-ALD being cause Addison's disease. biochemical defect accumulation very-long-chain fatty acids (VLCFA, chain length more than 22 carbon atoms), particularly cholesterol ester fraction adrenal gland brain white matter. mutations ABCD1 gene, which ...
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