Batten disease research--where we were--where we are--where we are going
| Autor: | J. Alfred Rider, Dean I. Rider |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Neurogenetic disease
medicine.medical_specialty Batten disease business.industry Diagnostic test General Medicine Disease medicine.disease Pediatrics Neurology Neuronal Ceroid-Lipofuscinoses Pediatrics Perinatology and Child Health medicine Humans Neuronal ceroid lipofuscinosis Neurology (clinical) Psychiatry business Child Stroke |
| Zdroj: | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 5 |
| ISSN: | 1090-3798 |
| Popis: | The modem era of Batten disease research began in 1968 with the creation of the Children's Brain Diseases Foundation, whose goal was to discover the cause and cure of Batten disease. The first steps were to create local, national and international awareness for this condition and to sort out the various theories as to the cause; such as, viral diseases, toxicity, disorders in lipid metabolism, abnormalities in peroxide metabolism and genetic defects. At that time, there was no definitive clinical diagnostic test, and it was by no means clear that this was a genetic disease. In the ensuing years, by providing seed money to various investigators and finally, with the enlistment of the support of the National Institute of Neurological Disorders and Stroke (NINDS), significant advances have been made. It is now clear that Batten disease or neuronal ceroid lipofuscinosis (NCL) is the most common recessive neurogenetic disease in children and may occur as frequently as one in 12 500 births depending upon ethnicity. There are three major |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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