Bronzekrankheit und sklerosierende Encephalomyelitis

Siemerling, E.; Creutzfeldt, H. G.

doi:10.1007/bf01835678

Cited by 142 publications

(30 citation statements)

References 27 publications

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“…Since the description by Moser et al5 of an increased content of very long chain fatty acids (VLCFAs) in plasma, this assay has been widely used as a screening test for X-ALD and has aided in the identification of presymptomatic and asymptomatic cases as well as several different phenotypes of X-ALD6 (see table 1). It is also recognised that women heterozygous for X-ALD may develop a spastic paraparesis .7 This is a report of one family with progressive childhood X-ALD in which the characteristic abnormalities of plasma VLCFAs were non-diagnostic and were regarded as normal.…”

mentioning

confidence: 99%

X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.

Kennedy

Allen

Fensom

et al. 1994

Journal of Neurology, Neurosurgery & Psychiatry

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Measurement of plasma very long chain fatty acids is widely recognised as a sensitive screening test for X-linked adrenoleukodystrophy (X-ALD). This test has particular importance because of the highly variable clinical expression of X-ALD. In this affected family the progressive childhood form of X-ALD was accompanied by "non-diagnostic" concentrations of plasma very long chain fatty acids. The implications for diagnosis of X-ALD are discussed. (J Neurol Neurosurg Psychiatry 1994;57:759-761)

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mentioning

confidence: 99%

X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.

Kennedy

Allen

Fensom

et al. 1994

Journal of Neurology, Neurosurgery & Psychiatry

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“…[4][5][6][7] e estimated incidence of the disease is 1-5/100000. 7 e classi cation of the di erent phenotypes of X-ALD is somewhat arbitrary.…”

Section: Discussionmentioning

confidence: 99%

Adrenoleukodystrophy: two case reports

et al. 2016

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Adrenoleukodystrophy (ALD) is a peroxisomal disorder characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in plasma, various tissues of body and central nervous system. It causes demyelination and adrenocortical insuciency. High levels of very long chain fatty acids are found in tissues and body fluids, resulting from their impaired ?-oxidation in the peroxisomes. The most common form of ALD is an X-linked disorder with various presentations which is caused by mutations in the ABCD1 gene located on Xq28. The gene encodes a transmembrane transporter involved in the importation of very long chain fatty acids into peroxisomes. The phenotypic presentations are highly variable, which may lead to delayed recognition and misdiagnosis, as attention deficit and/or hyperactivity disorder in boys or multiple sclerosis in adults. The most common clinical picture is of a degenerative neurologic disorder appearing in childhood or adolescence and progressing to severe dementia and deterioration of vision, hearing, speech, and gait and death occur within a few years. Many patients have evidence of adrenal insufficiency at the time of neurologic presentation. Hydrocortisone and mineralocorticoid are necessary to treat adrenal insufficiency. High doses of hydrocortisone preoperatively and during recovery are needed for surgery and other stressful illnesses in affected individuals.Here, we described two patients with childhood onset ALD with clinical and laboratory features to illustrate the wide clinical variability of this condition.Bangladesh Med J. 2015 Sep; 44 (3): 168-171

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“…Approximately 50% of patients with the genetic defect of X-ALD develop the inflammatory cerebral form at some time in their life. The childhood cerebral phenotype is the one described initially by Siemerling and Creutzfeldt, 16 and until 1976 was considered to be essentially the only phenotype. It is associated with an intensely inflammatory demyelination that involves the cerebral hemispheres mainly.…”

Section: Phenotypes In X-ald Malesmentioning

confidence: 99%

Therapy of X-linked adrenoleukodystrophy

Moser

2006

Neurotherapeutics

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Summary: Current therapies for X-linked adrenoleukodystrophy (X-ALD) include replacement therapy with adrenal steroids, which is mandatory for all patients with impaired adrenal function but does not alter neurological progression significantly; dietary therapy with "Lorenzo's Oil," which appears to have a preventive effect in asymptomatic boys whose brain MRI is normal; and hematopoietic stem cell transplantation in patients in the early stage of the cerebral inflammatory phenotype. Application of these interventions requires careful assessment of the patients' phenotype, which often changes over time. Family screening provides important opportunities for disease prevention.

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Bronzekrankheit und sklerosierende Encephalomyelitis

Cited by 142 publications

References 27 publications

X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.

X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.

Adrenoleukodystrophy: two case reports

Therapy of X-linked adrenoleukodystrophy

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