Abstract
The neuronal ceroid lipofuscinoses (NCL) are worldwide the most common lysosomal storage disorders of childhood. Clinical features often include progressive visual impairment, seizures, psychomotor deterioration, dementia, and premature death. Most NCL cases are caused by mutations in the CLN1, CLN2 and CLN3 genes, which play an essential role in lysosomal protein degradation. Laboratory diagnostics for a patient suspected of NCL should start with enzyme analysis in the case of INCL and LINCL and investigation of lymphocyte vacuolisation for JNCL. Diagnosis at the protein level is not available for JNCL, but CLN3 mutation analysis is possible. The carrier status of healthy relatives in families with known mutations in either CLN1, CLN2, CLN3 or CLN6 can be determined with certainty by mutation analysis.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Aminopeptidases
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Child
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DNA Mutational Analysis
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Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
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Endopeptidases
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Genetic Heterogeneity
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Genetic Testing
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Humans
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Membrane Glycoproteins / genetics*
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Membrane Proteins / genetics*
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Molecular Chaperones / genetics*
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Neuronal Ceroid-Lipofuscinoses / complications
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Neuronal Ceroid-Lipofuscinoses / diagnosis
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Neuronal Ceroid-Lipofuscinoses / genetics*
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Peptide Hydrolases / genetics*
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Serine Proteases
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Thiolester Hydrolases
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Tripeptidyl-Peptidase 1
Substances
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CLN3 protein, human
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Membrane Glycoproteins
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Membrane Proteins
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Molecular Chaperones
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Tripeptidyl-Peptidase 1
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Thiolester Hydrolases
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PPT1 protein, human
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Endopeptidases
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Peptide Hydrolases
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Serine Proteases
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Aminopeptidases
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Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
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TPP1 protein, human