Molecular biologic techniques are playing an increasing role in the study of neurological diseases, particularly the inherited diseases. Not only are more inherited diseases being identified, but fundamental knowledge about detection, modification, pathophysiology, and putative attempts at therapy are emerging. Many of the autosomal recessive disorders exhibit characteristic markers in the storage of detectable products. This is not the case with many autosomal dominant disorders, for example, Huntington's disease in which there is neuronal degeneration. Despite this, locus assignment of the offending gene is proceeding in various disorders, and if the pedigree conditions are correct, presymptomatic detection can occur, or even prenatal detection as in Duchenne muscular dystrophy.1 In some genetic diseases more information about the fundamental defect is emerging. For example, in myotonic muscular dystrophy, the fundamental defect may be glucose intolerance with reduced affinity of the insulin receptors.2 While gene therapy has not yet been tried
Joynt RJ. Neurology. JAMA. 1985;254(16):2279–2280. doi:10.1001/jama.1985.03360160111025
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