The Neuronal Ceroid Lipofuscinosis Disorders (for health workers)

The neuronal ceroid lipofuscinosis (NCL) disorders are a group of genetically inherited lysosomal neurodegenerative diseases characterized by the intracellular accumulation of autofluorescent lipopigment storage material that leads to progressive neurologic degeneration in all age groups. The clinical course includes progressive cognitive failure (dementia, encephalopathy), seizures which often are myoclonic, progressive visual failure, and often movement abnormalities that are often ataxic or extrapyramidal. 1 These disorders are the most common reason for an inherited childhood neurodegenerative disease and are increasingly recognized in late-onset or adult-onset forms. Prevalence is estimated widely from 1.5 to 9 per million, and incidence, which varies among geographic ethnic regions, has been reported from 1.3 to 7 in 100,000 live births. This group of genetic disorders has an autosomal recessive inheritance, except for the rare autosomal dominant adult-onset disorder.1,2 There is increasing recognition of a broad clinical phenotypic scope of each of these genetic forms, with reports of increased intrafamilial variability and atypical cases. It is presumed that there are important epigenetic modulators to be identified, that directly or indirectly affect clinical expression, within any one of these genetically defined disorders….

PDF’i İndirmek için tıklayın.