• Applying the techniques of molecular genetics to the study of inherited diseases has made significant progress in recent years. The goal of this review is to update the clinical neurologist on the current state of progress in neurogenetic research. This progress has been primarily in the field of gene mapping—assigning a disease to its chromosomal locus. More recent advances have been in the cloning and study of the involved proteins in disorders such as Duchenne muscular dystrophy. The techniques are powerful and predictable in outcome. Knowledge in the field of genetic disorders will continue to expand rapidly. Many neurologic disorders have a genetic origin. As progress continues in the study of neurogenetic diseases, the clinical neurologist will have increasing options for diagnosis and counseling. Eventually, it is anticipated that therapeutic interventions will be available for some disorders. The clinical neurologist is a key worker in both research as well as the practical application of research advances. This review will focus initially and briefly on the basic methods of molecular genetic research. After the introduction to these methods, the remainder of the review will discuss recent advances in several neurogenetic disorders that are likely to be encountered by the clinical neurologist. Gene therapy will also be briefly discussed.
Payne CS, Roses AD. The Molecular Genetic Revolution: Its Impact on Clinical Neurology. Arch Neurol. 1988;45(12):1366–1376. doi:10.1001/archneur.1988.00520360084019
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