Thirty Years of Batten Disease Research: Present Status and Future Goals
| Autor: | J. Alfred Rider, Dean L. Rider |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Genetics
Neurogenetic disease Batten disease Endocrinology Diabetes and Metabolism Chromosome Disease History 20th Century Biology medicine.disease Biochemistry Endocrinology Neuronal Ceroid-Lipofuscinoses Child Preschool Research Support as Topic medicine Variant form Humans Juvenile Neuronal ceroid lipofuscinosis Child Molecular Biology Gene Forecasting |
| Zdroj: | Molecular Genetics and Metabolism. 66:231-233 |
| ISSN: | 1096-7192 |
| DOI: | 10.1006/mgme.1999.2827 |
| Popis: | From a meager beginning in 1968, when Batten disease or neuronal ceroid lipofuscinosis was practically unheard of, tremendous advances have been made. It is now recognized worldwide as the most common neurodegenerative disease in children and young adults. It is recognized as a genetic disease. The infantile form has been localized to chromosome 1 p32 and the juvenile form, to 16p12.1; the gene for the late infantile is on chromosome 11p15 and for a variant form of the late infantile, the gene lies on chromosome 15q21–23. Finally, the molecular basis of the late infantile form is probably a pepstatin-insensitive lysomal peptidase. The future is to identify carriers, prevent the disease, and develop treatment by gene and enzyme replacement. |
| Databáze: | OpenAIRE |
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