Article
Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease).
Current opinion in neurology - 1 Dec 2001
Mitchison H M, Mole S E
Abstract excerpt
In the past decade there have been significant advances in our understanding of the molecular genetic basis of the neuronal ceroid lipofuscinoses, a clinically and genetically heterogeneous group of childhood neurodegenerative storage disorders. Recent research progress is reviewed here, to summarize new disease gene identification, diagnostics, treatment, protein functional studies and investigations into the...
Topics
- Animals
- Child
- Chromosome Mapping
- Genotype
- Humans
- Infant
- Membrane Glycoproteins
- Membrane Proteins
- Models, Genetic
- Molecular Chaperones
- Neuronal Ceroid-Lipofuscinoses
- Phenotype
- Phosphoprotein Phosphatases
- Proteins
- Thiolester Hydrolases