Neuronal ceroid lipofuscinosis

Definition:

Neuronal ceroid lipofuscinosis (NCL) is a group of severe neurodegenerative lysosomal storage diseases characterized by intracellular accumulation of ceroid lipofuscin in neurons. NCLs share similar symptoms and signs such as retinopathy, epilepsy, and dementia. Historically, the NCLs were classified by age of disease onset as congenital NCL, infantile NCL (INCL), late infantile NCL (LINCL), juvenile NCL (JNCL) or adult NCL (ANCL). The presently used nomenclature is based on the genetic findings and divides the NCLs into thirteen forms, CLN1-CLN13.

References:

[1]. Alfried Kohlschütter, et al. Towards understanding the neuronal ceroid lipofuscinoses. Brain Dev. 2009 Aug;31(7):499-502. [Content Brief]

[2]. Bruno A Benitez, et al. Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. PLoS One. 2011;6(11):e26741. [Content Brief]

[3]. D E Sleat, et al. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science. 1997 Sep 19;277(5333):1802-5. [Content Brief]

[4]. Eija Siintola, et al. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet. 2007 Jul;81(1):136-46. [Content Brief]

[5]. Hanlin Gao, et al. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet. 2002 Feb;70(2):324-35. [Content Brief]

[6]. Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. Cell. 1995 Sep 22;82(6):949-57. [Content Brief]

[7]. J Vesa, et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature. 1995 Aug 17;376(6541):584-7. [Content Brief]

[8]. John F Staropoli, et al. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet. 2012 Jul 13;91(1):202-8. [Content Brief]

[9]. Jose Bras, et al. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet. 2012 Jun 15;21(12):2646-50. [Content Brief]

[10]. K E Wisniewski, et al. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology. 2001 Aug 28;57(4):576-81. [Content Brief]

[11]. Katherine R Smith, et al. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet. 2013 Apr 1;22(7):1417-23. [Content Brief]

[12]. Katherine R Smith, et al. Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet. 2012 Jun 8;90(6):1102-7. [Content Brief]

[13]. M Savukoski, et al. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet. 1998 Jul;19(3):286-8. [Content Brief]

[14]. Robert Steinfeld, et al. Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet. 2006 Jun;78(6):988-98. [Content Brief]

[15]. S Ranta, et al. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet. 1999 Oct;23(2):233-6. [Content Brief]

[16]. Sara E Mole, et al. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics. 2005 Sep;6(3):107-26. [Content Brief]

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