A correlative synopsis of the leukodystrophies.
Leukodystrophies are disorders affecting primarily oligodendroglial cells or myelin. Another necessary criteria for defining a leukodystrophy is that the disorder has to be of endogenous origin with a pattern compatible with genetic transfer of a metabolic defect. The clinical criterion of a steadily progressive deterioration of function must also be included. Much of the material presented during the conference related to three leukodystrophies from which subclasses with a relatively uniform clinical presentation can be distinguished and about which a considerable body of consistent biochemical information is available. These disorders are metachromatic leukodystrophy (MLD), globoid leukodystrophy (GLD, also referred to as Krabbe's disease) and adrenoleukodystrophy (ALD). Discussion was focused to the pathophysiology of the more prevalent "classical" subclass of each of these disorders; discussion of clinical variants was in the context of what we could learn about the more prevalent form. Finally, because of time restraints, most of the discussion on the final day was centered around MLD. This clinical disorder was used as a starting point for discussion of questions both specific to MLD as well as those questions common to all leukodystrophies. The discussion of GLD and ALD was more restricted and only points relevant to those specific leukodystrophies were discussed. Information from the presentation not dealing directly with these human disorders is also summarized.
D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics; D000818:Animals; D002648:Child; D004274:DNA, Recombinant; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis*; D005227:Fatty Acids / Q000378:metabolism; D005698:Galactosylceramidase / Q000172:deficiency; D005808:Genes, Recessive; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000235:genetics; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000235:genetics; D051379:Mice; D008818:Mice, Neurologic Mutants; D009154:Mutation; D009185:Myelin Proteins / Q000378:metabolism; D011609:Psychosine / Q000378:metabolism; D013433:Sulfoglycosphingolipids / Q000378:metabolism
D004274:DNA, Recombinant; D005227:Fatty Acids; D009185:Myelin Proteins; D013433:Sulfoglycosphingolipids; D011609:Psychosine; D005698:Galactosylceramidase