Clinical descriptions of a spate of hereditary neurological conditions, including Tay-Sachs disease, Gaucher disease, Fabry disease, and Niemann-Pick disease, appeared in the late 19th and early 20th centuries. The accumulating toxic sphingolipids in Gaucher disease and Niemann-Pick disease were identified in the 1930s and those in Tay-Sachs disease and Fabry disease in early 1960s. Specific enzymatic abnormalities were elucidated in each of these conditions between 1965 and 1969.1-6 Diagnostic tests based on assaying the respective enzymes were developed using white blood cells, cultured skin fibroblasts, and serum. These assays also provided for the identification of the majority of the carriers of these disorders. Prenatal detection of each of these conditions was established in the early 1970s.7-9 Genetic counseling for Tay-Sachs disease has reduced the number of cases by approximately 90%.
Brady RO. Neurogene Therapy for the 21st Century. Arch Neurol. 2000;57(1):54. doi:10.1001/archneur.57.1.54
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