Schilder's disease: Abnormal cholesterol retention and accumulation in cultivated fibroblasts

Burton, Benjamin T.; Nadler, HenryL.

doi:10.1016/s0022-3476(74)80781-x

Cited by 4 publications

(6 citation statements)

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“…The results are illustrated in Tables 1 and 2 and in Figure 2. In contrast to the findings of Burton & Nadler (1974), no evidence for a defect in cholesterol metabolism was obtained, except for a possible slight increase of 38-OH sterol formation in fibroblasts of one of our patients. The cellular cholesterol content was not elevated.…”

Section: Cholesterol Metabolisnzcontrasting

confidence: 99%

“…Several lines of evidence suggest that SCD is caused by a disorder in cholesterol metabolism (Menkes & Eviatar 1969, Forsyth et al 1971, Schaumburg et al 1972, Powers et al 1974; however, the defect has not yet been defined. Recently, Burton & Nadler (1974) presented data on a n accumulation of cholesterol in fibroblasts of SCD patients. These findings could not be confirmed in our laboratory (unpublished data).…”

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confidence: 99%

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Adrenoleukodystrophy (Siemerling‐Creutzfeldt disease): Heterozygote with two clonal fibroblast populations

1977

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On the fifth day after subcultivation, fibroblasts of two unrelated patients with adrenoleukodystrophy (Siemerling‐Creutzfeldt disease (SCD)) developed typical morphologic anomalies which could be seen by light microscopy. From skin biopsy material of an obligatorily heterozygous woman, both normal and morphologically defective colonies could be isolated. These findings suggest that the morphologic alterations are an expression of the defect in Siemerling‐Creutzfeldt disease. Furthermore, they suggest that the SCD locus is subject to lyonization.

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Section: Cholesterol Metabolisnzcontrasting

confidence: 99%

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confidence: 99%

Adrenoleukodystrophy (Siemerling‐Creutzfeldt disease): Heterozygote with two clonal fibroblast populations

1977

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“…A defect in the enzyme system responsible for degradation of fatty acids with twenty-two to twenty-six carbons has been postulated and is currently being explored in fibroblast cultures (Menkes & Corbo, 1977). To date, no defect has been consistently demonstrated in the cholesterol metabolism in fibroblasts of affected subjects (Burton & Nadler, 1974;Yavin et al, 1976;Ropers et al, 1977). We await further clarification of the proposed defect in fatty acid metabolism.…”

Section: Discussionmentioning

confidence: 99%

Adrenoleukodystrophy: Report of a Familial Case

Fettes

Killinger

Volpé

1979

Clinical Endocrinology

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Adrenoleukodystrophy is an unusual disorder in which progressive diffuse demyelination of the cerebrum is associated with adrenal insufficiency, and which is transmitted as a sex-linked recessive trait. This report describes a 36-year-old-male, who first presented 12 years previously with hypogonadothrophic hypogonadism. It is only more recently that he has developed primary adrenal insufficiency, as well as a neurological disorder characterized by cerebellar, pyramidal tract and cerebral cortical abnormalities. One brother died at age 7 with Schilder's disease, while another brother suffered adrenal insufficiency, progressive mental and neurological deterioration and death at age 38 with post-mortem evidence of adrenoleukodystrophy. Histological studies have revealed cytoplasmic striated inclusions, which proved to be lipid in nature, but the precise defect in lipid metabolism has yet to be clarified.

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“…Among the heterogeneous group of cerebral demyelinative disorders there is a specific form of Schilder's disease with adrenal insufficiency and an X-linked mode of inheritance (Hoefnagel et al, 1967;Forsyth, Forbes, and Cumings, 1971). It has been reported (Burton and Nadler, 1974) that abnormalities in cholesterol metabolism previously noted in brains of patients with Schilder's disease (Forsyth et al, 1971; Eto and Suzuki, 1971) may also be shown in cultured fibroblasts. Thus, after 10-12 days' exposure to labelled cholesterol, cultured fibroblasts from 3 male patients with Schilder's disease and varying degrees of adrenocortical insufficiency or unresponsiveness to ACTH accumulated more cholesterol than did normal cells.…”

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confidence: 95%