Article
Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene.
Journal of the neurological sciences - 15 Dec 2007
Sutovský Stanislav, Petrovic Robert, Chandoga Jan, Turcáni Peter
Abstract excerpt
BACKGROUND: X-linked adrenoleukodystrophy is a genetically determined disorder that causes varying degrees of malfunction of the adrenal cortex and central nervous system and is characterized by abnormally high levels of very long chain fatty acid in tissues and body fluids. The gene ABCD1, responsible for X-ALD, has been mapped on chromosome Xq28. More than 500 different mutations have been reported but no...
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