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

Abstract

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.

Adrenoleukodystrophy: diagnosis and carrier detection by determination of long‐chain fatty acids in cultured fibroblasts

“…From the point of reaching confluence, the long chain fatty acid content of ALD cells increases steadily for several days while remaining almost constant in controls. This finding is reminiscent of our previous report that several days after subcultivation, fibroblasts of (some) ALD patients undergo typical morphologic changes (Ropers et al 1977). Though this feature is rather inconsistent and therefore of little significance for the diagnosis of ALD, the simultaneous appearance of metabolic and morphologic abnormalities is intriguing and suggests that the two phenomena may be causally related.…”

“…Cytoplasmic inclusions in various tissues (Powell et al 1975, Schaumburg et al 1974) and morphologic abnormalities in cultured fibroblasts (Yavin et al 1976, Ropers et al 1977 suggest that ALD is a generalized rather than a systemic disorder. Though its basic biochemical defect has not yet been elucidated, there is now evidence for a disturbance of lipid metabolism.…”