6533b857fe1ef96bd12b3cad
RESEARCH PRODUCT
Neuronal ceroid-lipofuscinoses: The current status
Hans H. Goebelsubject
NosologyPrenatal diagnosisGeneral MedicineBiologymedicine.diseaseGene LocalizationDegenerative diseaseDevelopmental NeuroscienceNeuronal Ceroid-LipofuscinosesPediatrics Perinatology and Child HealthmedicineHumansNeuronal ceroid lipofuscinosisNeurology (clinical)NeuroscienceNeuronal Ceroid-Lipofuscinosesdescription
In view of the epidemiological connotation of childhood neuronal ceroid-lipofuscinosis (NCL) as one of the most frequent progressive lysosomal diseases and neurodegenerative disorders in children, the recognition of the individual clinical forms of childhood NCL is still based on invasive diagnostic electronmicroscopy which, currently, may be applied also for prenatal diagnosis. Like other inherited disorders, the NCL group has finally also benefited from the genetic breakthroughs of localization of the genes for infantile NCL and juvenile NCL on chromosomes 1 and 16, respectively. This review concerns recent advances in morphological studies, broadening of the clinical spectrum of childhood NCL, new biochemical findings, and preliminary therapeutic results. Hereditary animal models, largely for human juvenile NCL, have been successfully employed in elucidation of the nosology of NCL, but the basic defect in human, canine and ovine NCL remains unknown.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1992-07-01 | Brain and Development |