X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy

Geel, Björn M. van; Assies, Johanna; Wanders, R. J. A.; Barth, P. G.

doi:10.1136/jnnp.63.1.4

Cited by 139 publications

(112 citation statements)

References 121 publications

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“…Moser (1) reported that the prevalence of X-linked ALD was between one in 20,000 and one in 100,000 male births, and a European survey reported that the prevalence of this disease was at least one in 100,000 male births, with an overall prevalence of at least one in 200,000 (15). X-linked ALD has been identified in patients from all races and continents, with no apparent predilection for any one race (15).…”

Section: Clinical Manifestations Of X-linked Aldmentioning

confidence: 99%

Childhood X-linked Adrenoleukodystrophy: Clinical-Pathologic Overview and MR Imaging Manifestations at Initial Evaluation and Follow-up

Kim¹,

Kim²

2005

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Section: Clinical Manifestations Of X-linked Aldmentioning

confidence: 99%

Childhood X-linked Adrenoleukodystrophy: Clinical-Pathologic Overview and MR Imaging Manifestations at Initial Evaluation and Follow-up

Kim¹,

Kim²

2005

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“…After fatty acid addition to the cells, a general decrease in [1][2][3][4][5][6][7][8][9][10][11][12][13][14] C]acetate incorporation into total fatty acids as well as into cholesterol was detected (Fig. 2).…”

Section: Effect Of Exogenously Added Fatty Acids On Fatty Acids and Cmentioning

confidence: 99%

“…The biosynthesis and deposition of lipids play an important role in maintaining brain structure and function, for example, during development-associated biogenesis of neural cell membranes. It is well established that alterations in lipid metabolism are the cause of or are associated with many neurological diseases (1)(2)(3).…”

mentioning

confidence: 99%

Oleic acid is a potent inhibitor of fatty acid and cholesterol synthesis in C6 glioma cells

Natali

Siculella

Salvati

et al. 2007

Journal of Lipid Research

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Glial cells play a pivotal role in brain fatty acid metabolism and membrane biogenesis. However, the potential regulation of lipogenesis and cholesterologenesis by fatty acids in glial cells has been barely investigated. Here, we show that physiologically relevant concentrations of various saturated, monounsaturated, and polyunsaturated fatty acids significantly reduce [1-14 C]acetate incorporation into fatty acids and cholesterol in C6 cells. Oleic acid was the most effective at depressing lipogenesis and cholesterologenesis; a decreased label incorporation into cellular palmitic, stearic, and oleic acids was detected, suggesting that an enzymatic step(s) of de novo fatty acid biosynthesis was affected. To clarify this issue, the activities of acetylcoenzyme A carboxylase (ACC) and FAS were determined with an in situ digitonin-permeabilized cell assay after incubation of C6 cells with fatty acids. ACC activity was strongly reduced (?80%) by oleic acid, whereas no significant change in FAS activity was observed. Oleic acid also reduced the activity of 3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR). The inhibition of ACC and HMGCR activities is corroborated by the decreases in ACC and HMGCR mRNA abundance and protein levels. The downregulation of ACC and HMGCR activities and expression by oleic acid could contribute to the reduced lipogenesis and cholesterologenesis.-Natali, F., L. Siculella, S. Salvati, and G. V. Gnoni. Oleic acid is a potent inhibitor of fatty acid and cholesterol synthesis in C6 glioma cells. J. Lipid Res. 2007Res. . 48: 1966Res. -1975. After white adipose tissue, the brain is the organ with the highest lipid content of the body. The biosynthesis and deposition of lipids play an important role in maintaining brain structure and function, for example, during development-associated biogenesis of neural cell membranes. It is well established that alterations in lipid metabolism are the cause of or are associated with many neurological diseases (1-3).Astrocytes, the major class of glial cells in the mammalian brain, play an active role in brain metabolism. These cells surround intraparenchymal blood capillaries so that they represent the first cellular barrier for nutrients and other substances entering the brain system. A metabolic coupling between astrocytes and neurons to maintain energy metabolism homeostasis has been described (4, 5). Metabolic regulation in the brain has been investigated extensively, and those studies focused mostly on carbohydrate and amino acid metabolism (for review, see Ref. 6). During neuronal activity, glucose taken up by astrocytes is converted into lactate, which is then released into the extracellular space to be used by neurons (6). Regarding lipid metabolism, astroglial ketone body synthesis, showing characteristics strikingly similar to those of hepatic ketogenesis (7), may represent an important pathway for brain energy production and/or biosynthetic processes. The involvement of fatty acids in cell death pathways, particularly in the con...

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“…A few elderly males with mild symptoms have been reported 7, 8, 9, 10, but descriptions detailing symptoms and features in this subset of patients are lacking. The existence of such phenotypes is important, both for the counseling of young males diagnosed with X‐ALD on the basis of genetic studies, and for the further investigation of X‐ALD kindreds searching for affected males who may form a link to other affected branches of the pedigree.…”

Section: Introductionmentioning

confidence: 99%

Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report

Horn

Mikaelsen

Ferdinandusse

et al. 2015

Clinical Case Reports

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X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy

Cited by 139 publications

References 121 publications

Childhood X-linked Adrenoleukodystrophy: Clinical-Pathologic Overview and MR Imaging Manifestations at Initial Evaluation and Follow-up

Childhood X-linked Adrenoleukodystrophy: Clinical-Pathologic Overview and MR Imaging Manifestations at Initial Evaluation and Follow-up

Oleic acid is a potent inhibitor of fatty acid and cholesterol synthesis in C6 glioma cells

Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report

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