The neuronal ceroid-lipofuscinoses (Batten disease): A new class of lysosomal storage diseases

M. J. Bennett, S. L. Hofmann

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Abstract

The neuronal ceroid-lipofuscinoses (Batten disease) are a group of severe neurodegenerative disorders characterized clinically by visual loss, seizures and psychomotor degeneration, and pathologically by loss of neurons and lysosomal accumulation of autofluorescent storage material resembling ageing pigment. To date, eight genetic loci have been identified (CLN1-8). Four CLN genes have been isolated (CLN1, CLN2, CLN3 and CLN5) and their gene products have been characterized. CLN1 is a lysosomal palmitoyl-protein thioesterase (PPT) and CLN2 is a lysosomal pepstatin-insensitive peptidase. CLN3 and CLN5 are proteins with multiple membrane-spanning regions and have no homologies to other proteins that would suggest their function. The CLN3 protein is associated with lysosomal membranes and the intracellular location of the CLN5 protein is unknown. Therefore, there is ample evidence that the neuronal ceroid-lipofuscinoses represent a new class of lysosomal storage disorders.

Original languageEnglish (US)
Pages (from-to)535-544
Number of pages10
JournalJournal of Inherited Metabolic Disease
Volume22
Issue number4
DOIs
StatePublished - Jun 30 1999

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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