Metachromatic leukodystrophy: comparison of early-and late-onset forms.
Comparative study of peripheral nerve biopsies and cultured skin fibroblasts from patients with late infantile and early adult-onset forms of metachromatic leukodystrophy revealed similar pathologic changes in the early stages of nerve degeneration. However, the peripheral nerves in the adult-onset cases eventually reached a more chronically demyelinated fibrotic state than did nerves in the infantile cases. Cultured skin fibroblasts from the adult-onset patients, although clearly abnormal, were able to catabolize sulfatide significantly more effectively than the cultured skin fibroblasts from late infantile patients.
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002478:Cells, Cultured; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000378:metabolism / Q000648:ultrastructure; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008297:Male; D009186:Myelin Sheath / Q000648:ultrastructure; D010375:Pedigree; D013497:Sural Nerve / Q000648:ultrastructure