Linkage of DNA Markers at Xq28 to Adrenoleukodystrophy and Adrenomyeloneuropathy Present Within the Same Family

Willems, Patrick J.; Vits, Lieve; Wanders, Ronald J. A.; Coucke, P.; Auwera, Bart J. Van der; Elsen, August F. Van; Raeymaekers, Peter; Broeckhoven, Christine Van; Schutgens, R. B. H.; Dacremont, Georges

doi:10.1001/archneur.1990.00530060077022

Cited by 12 publications

(6 citation statements)

References 23 publications

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“…The ALD gene has been localized to the distal long arm of the X chromosome (Xq28) [12]and has been found to be in close genetic linkage to glucose 6-phosphate dehydrogenase deficiency and red-green color blindness [5]. There are no known genes for ulcerative colitis or vitiligo on the X chromosome.…”

Section: Discussionmentioning

confidence: 99%

“…This association may be either (1) secondary to the proximity of the genes responsible for the two diseases, on the long arm of the X chromosome, as in hemophilia A, glucose 6 phosphate dehydrogenase deficiency and red-green color blindness [5]; (2) because of different organ involvement in this inherited disoder, as in hypogonadism [6], or (3) because of similarity in the symptoms to other CNS disorders, as in spastic paraparesis [6]and spinocerebellar degeneration [7]. ALD has rarely been reported to be associated with autoimmune diseases.…”

Section: Introductionmentioning

confidence: 99%

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Adrenoleukodystrophy Associated with Vitiligo and Ulcerative Colitis

Mourad¹,

Najjar

Mikati

et al. 1999

Eur Neurol

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Adrenoleukodystrophy (ALD) is an X-linked inherited disorder of lipid metabolism usually presenting in childhood or early adolescence. It is a progressive disease with symptoms of adrenal insufficiency and central nervous system demyelination. The pathology results from the accumulation of very long-chain fatty acids and an inflammatory reaction in the brain white matter. We report a case of ALD associated with adrenal insufficiency and two autoimmune diseases: vitiligo and ulcerative colitis.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Adrenoleukodystrophy Associated with Vitiligo and Ulcerative Colitis

Mourad¹,

Najjar

Mikati

et al. 1999

Eur Neurol

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“…For women with a clinical history that is consistent with the heterozygous state of XL-ALD but who have normal blood levels of VLCFAs, the quantitation of VLCFAs in fibroblasts can be an additional diagnostic test, as is testing of somatosensory and auditory evoked responses. DNA polymorphisms that are tightly linked to the mutant gene have been very useful in limited situations such as the diagnosis of some heterozygous females (155,249,268), but will probably be largely replaced by direct analysis of the gene.…”

Section: Krabbe Diseasementioning

confidence: 99%

Genetic disorders that masquerade as multiple sclerosis

Natowicz

Bejjani

1994

Am. J. Med. Genet.

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There are many genetic disorders that have signs and symptoms suggestive of multiple sclerosis and that may easily be overlooked in the evaluation of both adult and pediatric multiple sclerosis patients. The recognition of a genetic disorder as the cause of a patient's "multiple sclerosis" phenotype has important implications not only for the patient, but often also for others in the patient's family who may be at risk for the same disease. We present here a review of single gene disorders that can masquerade as multiple sclerosis. For each disorder, the major clinical and biochemical characteristics are discussed, together with the appropriate testing to screen for and confirm the diagnosis. In addition, guidelines are presented for when to suspect an underlying genetic condition in a patient with a diagnosis of definite or probable multiple sclerosis. The great variety of genetic disorders that can masquerade as multiple sclerosis and the many implications of a genetic diagnosis underscore the importance of recognizing genocopies of multiple sclerosis.

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“…The diagnostic role of biochemical assays and of link age analyses is well established nowadays [35]. However, two other diagnostic procedures are of interest: (1) neu roimaging (MRI) to visualize the brain and spinal cord [36]; (2) towards the frontal lobes but it may also occur the other way around.…”

Section: Ald and Adrenomyeloneuropathymentioning

confidence: 99%

Schilder's Diffuse Sclerosis

Martin

Guazzi

1991

Dev Neurosci

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The natural history and the evolution of the concept of Schilder''s diffuse sclerosis have been described by Poser and van Bogaert in 1956 and there is really not much to add to their analysis. The major progress made in the clinical, genetic, enzymatic and biochemical workup of many of the conditions previously grouped under the denomination of Schilder''s disease confirms its heterogeneity. We will discuss (1) the myelinoclastic disorders; (2) the leukodystrophies with disorders such as adrenoleukodystrophy and the still very ill-defined sudanophilic leukodystrophies; (3) the subacute sclerosing leukoencephalitis, better known today as the subacute sclerosing panencephalitis. In conclusion, the name of Schilder is to be remembered as are all the names of the great neurologists and neuropathologists of the past but it would be better to avoid nowadays the eponym of Schilder''s disease in order to prevent confusion between different disorders.

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Linkage of DNA Markers at Xq28 to Adrenoleukodystrophy and Adrenomyeloneuropathy Present Within the Same Family

Cited by 12 publications

References 23 publications

Adrenoleukodystrophy Associated with Vitiligo and Ulcerative Colitis

Adrenoleukodystrophy Associated with Vitiligo and Ulcerative Colitis

Genetic disorders that masquerade as multiple sclerosis

Schilder's Diffuse Sclerosis

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