The prevention of neurogenetic disease.
A significant number of major neurogenetic diseases have been defined at the molecular level in recent years, making it possible to determine precisely the genotype for familial Alzheimer's disease, Huntington's disease, Machado-Joseph disease, dominantly inherited ataxia, Charcot-Marie-Tooth disease, myotonic muscular dystrophy, Duchenne-Becker muscular dystrophy, familial amyotrophic lateral sclerosis, and neurofibromatosis. This information has made it possible to identify the abnormal genotype of at-risk persons for these diseases and for at-risk pregnancies for several of them. Precise molecular diagnoses are thus possible using applied molecular markers. Prevention of disease can be achieved using these molecular markers with genetic counseling and appropriate family planning. Significant progress is being made in this regard with Tay-Sachs disease, Huntington's disease, the dominantly inherited ataxias, and the muscular dystrophies. Further, this molecular genotyping will be of indispensible value to families with these diseases when somatic cell gene therapy becomes available. The field of molecular neurogenetics is moving forward rapidly, and advances in gene identification for these diseases will lead in the near future to the means to prevent many of them.
Rosenberg
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RN
Department of Neurology, University of Texas Southwestern Medical Center-Dallas, USA.
Iannaccone
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ST
D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics; D001483:Base Sequence; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D004247:DNA / Q000235:genetics; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics; D005819:Genetic Markers; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D012091:Repetitive Sequences, Nucleic Acid; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics; D013661:Tay-Sachs Disease / Q000175:diagnosis / Q000235:genetics
D005819:Genetic Markers; D004247:DNA