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Neuronal Ceroid-Lipofuscinoses

More information in Books or onNLM PubMed
Definition: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.      Other names Spielmeyer-Vogt Disease; Santavuori-Haltia Disease; Kufs Disease; Jansky-Bielschowsky Disease; Ceroid-Lipofuscinosis, Neuronal; Batten Disease; Storage Diseases, Lipofuscin; Storage Diseases, Ceroid; Storage Disease, Lipofuscin; Storage Disease, Ceroid; Spielmeyer Vogt Disease; Santavuori Haltia Disease; Neuronal Ceroid Lipofuscinosis, Late Infantile; Neuronal Ceroid Lipofuscinosis; Neuronal Ceroid Lipofuscinoses; Lipofuscin Storage Diseases; Late Infantile Neuronal Ceroid Lipofuscinosis; Juvenile Cerebroretinal Degenerations; Jansky Bielschowsky Disease; Diseases, Lipofuscin Storage
 
SubstanceCAS Registry & nameCategoriesSource
Ceroid lipofuscinosis, neuronal 9  0   *Neuronal Ceroid-Lipofuscinoses.
Ceroid lipofuscinosis, neuronal 8  0   *Neuronal Ceroid-Lipofuscinoses.
Ceroid lipofuscinosis, neuronal 5  0   *Neuronal Ceroid-Lipofuscinoses.
Ceroid lipofuscinosis, neuronal 4  0   *Neuronal Ceroid-Lipofuscinoses.
Ceroid lipofuscinosis, neuronal 3, Juvenile  0   *Neuronal Ceroid-Lipofuscinoses.
Ceroid lipofuscinosis, neuronal 1, infantile  0   *Neuronal Ceroid-Lipofuscinoses.
Cln5 protein, mouse  0   *Membrane Glycoproteins Neuronal Ceroid-Lipofuscinoses. Neurobiol Dis. 2004 Jun;16(1):29-40
Cln6 protein, mouse  0   *Membrane Proteins Neuronal Ceroid-Lipofuscinoses.
CLN6 protein, human  0   *Membrane Proteins Neuronal Ceroid-Lipofuscinoses. Am J Hum Genet 2002 Feb;70(2):324-35
PPT1 protein, human  0   *Membrane Proteins Neuronal Ceroid-Lipofuscinoses. J Comp Neurol 2000 Oct 23;426(3):406-12
CLN5 protein, human  0   *Membrane Proteins Neuronal Ceroid-Lipofuscinoses. Nat Genet 1998 Jul;19(3):286-8
CLN3 protein, human  0   *Membrane Glycoproteins *Molecular Chaperones Neuronal Ceroid-Lipofuscinoses. Genomics 1997 Mar 1;40(2):346-50
tripeptidyl-peptidase 1  EC 3.4.14.9   *Aminopeptidases *Dipeptidyl-Peptidases and Tripeptidyl-Peptidases *Serine Proteases Neuronal Ceroid-Lipofuscinoses Biological Markers. Arch Biochem Biophys 1993 Nov 1;306(2):354-9

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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