Accumulation of very long chain fatty acids is common to 3 variants of adrenoleukodystrophy (ALD)

Molzer, Brunhilde; Bernheimer, H.; Budka, Herbert; Pilz, P.; Toifl, K.

doi:10.1016/0022-510x(81)90108-8

Cited by 41 publications

(6 citation statements)

References 21 publications

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“…The inclusions were shown to consist of cholesterol esterified with abnormally long-chain saturated fatty acids (C24-C30) 1371. A striking excess of saturated unbranched very-long-chain fatty acids (VLCFAs) in the cholesterol ester and ganglioside fractions of brain white matter and adrenal cortex has been demonstrated in all patients with ALD 135, 50,56,841. Subsequent studies have shown that levels of saturated VLCFA appear to be increased to a varying extent in nearly all lipid moieties, tissues, and body fluids of affected patients 142, 57,60,61,97).…”

Section: Powers and Schaumburgmentioning

confidence: 99%

Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy

Moser

Singh

et al. 1984

Annals of Neurology

247

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Adrenoleukodystrophy (ALD) is a genetically determined disorder associated with progressive central demyelination and adrenal cortical insufficiency. All affected persons show increased levels of saturated unbranched very-long-chain fatty acids, particularly hexacosanoate (C26:0), because of impaired capacity to degrade these acids. This degradation normally takes place in a subcellular organelle called the peroxisome, and ALD, together with Zellweger's cerebrohepatorenal syndrome, is now considered to belong to the newly formed category of peroxisomal disorders. Biochemical assays permit prenatal diagnosis, as well as identification of most heterozygotes. We have identified 303 patients with ALD in 217 kindreds. These patients show a wide phenotypic variation. Sixty percent of patients had childhood ALD and 17% adrenomyeloneuropathy, both of which are X-linked, with the gene mapped to Xq28. Neonatal ALD, a distinct entity with autosomal recessive inheritance and points of resemblance to Zellweger's syndrome, accounted for 7% of the cases. Although excess C26:0 in the brain of patients with ALD is partially of dietary origin, dietary C26:0 restriction did not produce clear benefit. Bone marrow transplant lowered the plasma C26:0 level but failed to arrest neurological progression.

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Section: Powers and Schaumburgmentioning

confidence: 99%

Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy

Moser

Singh

et al. 1984

Annals of Neurology

247

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“…Mitochondnal encephalomyopathy: estimation of lactate (Shaffar and Stroupe, 1983) and pyruvate (Czok and Lamprecht, 1974) in plasma before and after physical activity; estimation of lactate and pyruvate in CSF (three patients), analysis for mitochondnal DNA mutation in position 8344 ( M E W ) and 3243 (MELAS) using the polymerase chain reaction (Ciafaloni et al, 1992;Shofier et al, 1990); skeletal muscle biopsy to detect a mitochondria1 disorder (three cases). Adrenoleukodystrophy: determination of very long-chain fatty acids using gas liquid chromatography (Molzer et al, 1981). Lyme disease: measurement of antibodies to Borrelia burgdorjeri in serum and CSF (Hansen et al, 1988(Hansen et al, , 1990 of antinuclear antibodies (Rothfield, 199 1); determination of antibodies to native DNA using Ouchterlony double diffusion in agarose gel against Ro SS-A and La SS-B (Clark et al, 1969).…”

Section: Methodsmentioning

confidence: 99%

Diagnostic problems in “clinically definite” multiple sclerosis patients with normal CSF and multiple MRI abnormalities

Fieschi

Gasperini

Ristori

et al. 1994

Euro J of Neurology

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Among patients who underwent cerebrospinal fluid (CSF) and magnetic resonance imaging (MRI) examination during a 5-year period, we found 18 patients at the multiple sclerosis center of the University of Rome and clinically definite multiple sclerosis, MRI white matter abnormalities, normal CSF examination, a disease duration of at least 1 year and an upper age of < 45 years at onset These patients were examined again with a variety of tests screening for different diseases mimicking multiple sclerosis. Alternative diagnoses reached after laboratory tests were: Lyme disease, two cases of vasculitis, mitochondrial encephalomyopathy, multiple ischemic lesions caused by atrial septum aneurysm and olivopontocerebellar atrophy. Hence, six of these 18 patients had a final diagnosis other than multiple sclerosis, while 12 remained with a final diagnosis of "MS with normal CSF". Our study suggests that in patients with a clinical picture of multiple sclerosis and disseminated white matter MRI lesions but no CSF abnormalities, the classical clinical criteria may not be sufficiently specific, unless confirmed by a very prolonged clinical history with repeated MRI.

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“…This is unusual in ALD heterozygotes in whom the most common manifestation consists of pro gressive paraparesis [4]. However 2 cases of heterozygote women with severe dementing illness have been reported [5,6].…”

Section: Discussionmentioning

confidence: 99%

Cognitive Function in Adult Adrenoleukodystrophy: Comparison with Leukoaraiosis and Multiple Sclerosis

Lyon-Caen

Benoit²,

Carreau³

et al. 1991

Dev Neurosci

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Cognitive evaluation of 6 cases of adult adrenoleukodystrophy (ALD) included in a brain magnetic resonance (MR) study are reported: 2 males with adrenomyeloneuropathy and 4 women heterozygous for ALD. Cognition was normal in 4 and MR scan in 2 of them. In the 2 others, there were mild modifications of the white matter. One patient suffered of visual retention disturbances with abnormalities of the white matter in MR scan. In the last, cognitive decline was observed; MR scan showed atrophy of cortex and corpus callosum and periventricular high signal areas. Comparison with leukoaraiosis in healthy adults and with multiple sclerosis suggests that there is probably a relationship between cognition and extension of brain MR abnormalities. Time of appearance and frequency of cognitive dysfunction might be explained by the natural history of each of these diseases.

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Accumulation of very long chain fatty acids is common to 3 variants of adrenoleukodystrophy (ALD)

Cited by 41 publications

References 21 publications

Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy

Adrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy

Diagnostic problems in “clinically definite” multiple sclerosis patients with normal CSF and multiple MRI abnormalities

Cognitive Function in Adult Adrenoleukodystrophy: Comparison with Leukoaraiosis and Multiple Sclerosis

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