TY - CHAP M1 - Book, Section TI - Chapter 24. Inherited Neurodegenerative Disorders A1 - Percy, Alan K. A2 - Carney, Paul R. A2 - Geyer, James D. PY - 2010 T2 - Pediatric Practice: Neurology AB - Understanding the inherited neurodegenerative diseases of childhood has evolved dramatically in the past 40 years. Fundamental discoveries in biochemistry uncovered the metabolic basis for many of these diseases. The subsequent identification of variant forms created additional challenges for the clinician. These variant forms share similar, if not identical, biochemical defects, but exhibit widely differing clinical expressions. Recent progress followed the rapid development and application of molecular-genetic strategies and the close linkage between clinical observations and basic science advances. The successes of molecular genetics have provided significant clarifications, but have also generated further examples of the marked heterogeneity within these disorders. These advances explain how disorders with clearly different phenotypic expression can result from different mutations within the same gene and, conversely, how disorders with similar clinical features result from mutations in different genes. Examples of the former include GM2-gangliosidosis variants and examples of the latter include the neuronal ceroid lipofuscinoses. Thus, at the clinical, biochemical, and molecular level, the clinician is faced with an increasingly complex knowledge base, the unraveling of which may present major diagnostic hurdles. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/10/08 UR - accesspediatrics.mhmedical.com/content.aspx?aid=6653585 ER -