TY - JOUR
T1 - The Prevention of Neurogenetic Disease
AU - Rosenberg, R. N.
AU - Iannaccone, S. T.
PY - 1995/4
Y1 - 1995/4
N2 - 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-ri 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.
AB - 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-ri 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.
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U2 - 10.1001/archneur.1995.00540280038016
DO - 10.1001/archneur.1995.00540280038016
M3 - Article
C2 - 7710370
AN - SCOPUS:0028929456
SN - 0003-9942
VL - 52
SP - 356
EP - 362
JO - Archives of neurology
JF - Archives of neurology
IS - 4
ER -