Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease)

Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease)

Mitchison HM; Mole SE

Current Opinion In Neurology

2001

Child; Phenotype; infant; Models; Membrane Proteins/genetics; Human; Genetic; Animal; Genotype; Chromosome Mapping; Proteins/genetics; Neuronal Ceroid-Lipofuscinosis/diagnosis/genetics/therapy; Phosphoprotein Phosphatase/genetics

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.

2001

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