Krabbe continuum or clinical conundrum?
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Molecular biology has had an extraordinary impact on our understanding of the genetic basis of human disease, fully one third of which affects neurologic function. The past decade has witnessed most of these advances. One of the principal products of this new information has been the demonstration that diseases with clearly different phenotypic expression may result from allelic mutations within the same gene. Neurologists and geneticists have long recognized that hexosaminidase A deficiency typically presents during infancy as Tay-Sachs disease but may also manifest in adolescence or adulthood with completely different pictures, including motor neuron disease, spinocerebellar degeneration, basal ganglia dysfunction, or, perhaps most disconcertingly, psychosis.1 These clinically disparate phenotypes are all explainable by different mutational events within the hexosaminidase genes, leading to variable functional abnormalities at the cellular level. Similar phenotypic heterogeneity exists among numerous other diseases that occur primarily within the pediatric age range, including X-linked spastic paraparesis, which is allelic with Pelizaeus-Merzbacher disease2,3; occipital horn syndrome, which is allelic with Menkes disease4; GM1 gangliosidosis5; and adult-onset metachromatic leukodystrophy.6
To aid the clinician in dealing with this varied disease spectrum, many inherited neurometabolic disorders, particularly …
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