Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease).
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 underlying molecular pathogenesis of these devastating disorders.
Mitchison
H M
HM
Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London WC1E 6JJ, UK. hmitchis@ucl.ac.uk
Mole
S E
SE
D000818:Animals; D002648:Child; D002874:Chromosome Mapping; D005838:Genotype; D006801:Humans; D007223:Infant; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000235:genetics; D008957:Models, Genetic; D018832:Molecular Chaperones; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010641:Phenotype; D010749:Phosphoprotein Phosphatases / Q000235:genetics; D011506:Proteins / Q000235:genetics; D013869:Thiolester Hydrolases
C105199:CLN3 protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D018832:Molecular Chaperones; D011506:Proteins; D013869:Thiolester Hydrolases; C416054:PPT1 protein, human; D010749:Phosphoprotein Phosphatases