ceroid lipofuscinosis—neuronal—1

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ceroid lipofuscinosis—neuronal—12016-11-25T07:45:31+00:00

ceroid lipofuscinosis—neuronal—1 

METABOLISM, NEUROLOGY 

A form (OMIM:256730) of ceroid lipofuscinosis—neuronal–CLN* with variable age of onset (infantile, late-infantile, juvenile, and adult). The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposition.

*CLNs are progressive neurodegenerative, lysosomal storage diseases characterised by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, vision loss, and/or cerebral atrophy. 

Molecular pathology Defects of PPT1, which encodes a glycoprotein enzyme that removes thioester-linked fatty acyl groups–e.g., palmitate from cysteine residues, cause ceroid lipofuscinosis—neuronal—1. 

Synonyms Ceroid lipofuscinosis—neuronal—1—variable age at onset, CLN1, Finnish type ceroid lipofuscinosis, Hagberg-Santavuori variant of neuronal ceroid lipofuscinosis, Haltia-Santavuori disease, INCL—included, infantile Finnish type of neuronal ceroid lipofuscinosis, infantile type neuronal ceroid lipofuscinosis, infantile type of so-called neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis—1, neuronal ceroid lipofuscinosis—infantile included, polyunsaturated fatty acid neuronal ceroid lipofuscinosis, Santavuori disease—included, Santavuori-Haltia disease—included, Santavuori syndrome 

References http://www.uniprot.org/uniprot/P50897

http://www.omim.org/entry/256730

 

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