By Hugo W. Moser (auth.), Harry Harris, Kurt Hirschhorn (eds.)
The present quantity comprises chapters on peroxisomal issues, genetic points of melanoma, Gaucher ailment, and different topics.
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Additional info for Advances in Human Genetics 21
The neuropathology in this group differs from that in classical Zellweger syndrome. Degeneration in cerebral and cerebellar white matter with preservation ofaxons was the main abnormality, and in some instances perivascular cuffs of lympho- 28 Hugo W. Moser cytes were present as in X-linked ALD (see p. 63). Neuronal migrational defects were confined to the cerebellar Purkinje cells. The cytoarchitecture of the cerebral hemispheres and the olivary nucleus was normal. Thus, whereas in Zellweger syndrome the neuronal migrational defect is severe and the white matter abnormality is variable and relatively mild, in neonatal ALD the reverse is true.
1987). Parallel studies of peroxisomal protein import were conducted with peroxisomal acyl-CoA oxidase by S. Miyazawa et al. (1989). These investigators found that the targeting signal was contained in the five carboxy-terminal amino acids of this enzyme. , 1988). , 1990). Substitution of any amino acid for the terminal leucine abolished the topogenic signal. The serine residue could be replaced by cysteine or alanine, and the lysine residue by histidine or arginine, both without loss of import activity.
The disorders range in severity from phenotypes that are almost as severe and as rapidly fatal as classical Zellweger syndrome to those that permit survival to the second or third decade and possibly longer, although it must be emphasized that even these milder forms are associated with mental retardation and serious handicaps. The severe category cases are differentiated from classical Zellweger syndrome in that they lack the full-blown facial dysmorphism and do not have renal cysts or punctate stippling of cartilage (chondrodysplasia punctata) on radiographs.