2007
DOI: 10.1038/ncpneuro0421
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X-linked adrenoleukodystrophy

Abstract: X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. X-ALD is panethnic and affects approximately 1:20,000 males. Phenotypes include the rapidly progressive childhood, adolescent, and adult cerebral forms; adrenomyeloneuropathy, which presents as slowly progressive paraparesis in adults; and Addison disease without neurologic manifestations. These pheno… Show more

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Cited by 388 publications
(296 citation statements)
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“…Seventy percent of all patients are adrenal insufficient. The two most common neurological presentations of the disease are an early onset (\10 years), rapidly progressing, inflammatory cerebral demyelination known as childhood cerebral XALD (CCALD) or a later onset (mean age 28 years), slowly progressing, non-inflammatory axonopathy of the spinal cord termed adrenomyeloneuropathy (AMN) [1,4]. Other less common presentations include adolescent cerebral XALD, adult cerebral XALD, AMN with cerebral involvement, Addison-only phenotype, and asymptomatic.…”
Section: Introductionmentioning
confidence: 98%
See 1 more Smart Citation
“…Seventy percent of all patients are adrenal insufficient. The two most common neurological presentations of the disease are an early onset (\10 years), rapidly progressing, inflammatory cerebral demyelination known as childhood cerebral XALD (CCALD) or a later onset (mean age 28 years), slowly progressing, non-inflammatory axonopathy of the spinal cord termed adrenomyeloneuropathy (AMN) [1,4]. Other less common presentations include adolescent cerebral XALD, adult cerebral XALD, AMN with cerebral involvement, Addison-only phenotype, and asymptomatic.…”
Section: Introductionmentioning
confidence: 98%
“…X-linked adrenoleukodystrophy (XALD) is a neurodegenerative disorder caused by mutations in the peroxisomal membrane protein gene ABCD1 that affects 1:17,000 males [1]. The biochemical hallmark of the disease is an increase in very long chain fatty acid (VLCFA) levels in patient tissues and plasma.…”
Section: Introductionmentioning
confidence: 99%
“…In particular, X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder secondary to alterations in the ABCD1 (ATP-binding cassette, sub-family D, member 1) gene that shows a wide range of phenotypic expression, from a severe cerebral progressive form in childhood to a mild adult myelopathy [2]. For this reason, the molecular analysis of the ABCD1 gene was performed on DNA extracted from peripheral blood of the patient and her relatives, and revealed a heterozygous two base pair deletion at position 1415-1416 in exon 5 (c.1415_1416delAG; p.Gln472ArgfsX83), the most common mutation in X-ALD families [3].…”
mentioning
confidence: 99%
“…In particular, it is estimated that up to 50% of women who are heterozygous for X-ALD may develop a slowly progressive myelopathy [2].…”
mentioning
confidence: 99%
“…It is characterized by progressive demyelination of central nervous system, adrenocortical insufficiency and elevated levels of very long chain fatty acids (VLCFAs) in plasma and tissues. Diagnosis is usually based on clinical, radiological and serological examinations and it should be confirmed with molecular analysis of ABCD1 gene [2,3]. To date, more than 1300 mutations have been reported and listed in X-ALD database [4].…”
Section: Introductionmentioning
confidence: 99%