Neuronal-ceroid lipofuscinosis

Infantile neuronal ceroid lipofuscinosis (CLN1) Autosomal recessive Palmitooylprotein thioesterase... 

Late infantile neuronal ceroid lipofuscinosis (CLN2) Autosomal recessive Pepstatin-insensitive lysosomal peptidase... 

Infantile neuronal ceroid lipofuscinosis CNL1 Palmitoyl protein thioesterase Saposins... 

Neuronal ceroid lipofuscinosis (CNL5) Danon s disease (LAMP-2 deficiency) Niemann-Pick disease C type 1 Cystinosis... 

Kakela R, Somerharju P, Tyynela J. 2003. Analysis of phospholipids molecular species in brains from patients with infantile and juvenile neuronal-ceroid lipofuscinosis using liquid chromatography-electrospray ionization mass spectrometry. J Neurochem 84 1051. 

Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Gupta, P., Soyombo, A.A., Atashband, A., Wisniewski, K.E., Shelton, J.M., Richardson, J.A., Hammer, R.E., Hofmann, S.L. (2001). Proc Natl Acad Sci, USA, 98... 

Griffey, M., Bible, E., Yogler, C., Levy, B., Gupta, P., Cooper, J. and Sands, M. S. (2004). Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis. Neurobiol. Dis. 16, 360-369. 

Haskell, R. E., Hughes, S. M., Chiorini, J. A., Alisky, J. M. and Davidson, B. L. (2003). Viral-mediated delivery of the late-infantile neuronal ceroid lipofuscinosis gene, TPP-I to the mouse central nervous system. Gene Ther. 10, 34-42. 

Junaid, M. A., Wu, G., and Pullarkat, R. K. (2000). Purification and characterization of bovine brain lysosomal pepstatin-insensitive proteinase, the gene product deficient in the human late-infantile neuronal ceroid lipofuscinosis. J. Neurochem., 74, 287-294. 

Rawlings, N. D., and Barrett, A. J. (1999). Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis. Biochim. Biophys. Acta, 1429, 496-500. 

Ezaki, J., Takeda-Ezaki, M., Oda, K., and Kominami, E. (2000). Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infatile neuronal ceroid lipofuscinosis. Biochem. Biophys. Res.Commun., 268, 904-908. 

Terman A, Neuzil J, Kagedal K, et al. Decreased apoptotic response of inclusion-cell disease fibroblasts a consequence of lysosomal enzyme missorting Exp Cell Res 274 9-15,2002. Verkruyse LA, Natowicz MR, Hofmann SL Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease. Biochim Blophys Acta 1361 1-5,1997. von Figura K, Hasilik A Lysosomal enzymes mind their receptors. Anna Rev Biochem 55 167-193, 1986. 

Palmitoylated proteins Infantile neuronal ceroid lipofuscinosis (NCL) Palmitoyl-protein thioesterase lp32... 

Observations of metabolic cross-correction provided the rationale for cellular replacement, achieved primarily through allogeneic hematopoietic stem cell or bone transplantation (HSCT) (Prasad and Kurtzberg, 2008). More recently, the use of neural stem cells (NSC) implanted in the brain of patients with late-infantile neuronal ceroid lipofuscinosis has been contemplated (Pierret et al., 2008) but there are no reports as yet of its potential efficacy. Within the central nervous system there must be proper integration of donor cells, and differentiation into appropriate cell types. As specialized cell types within the nervous system elaborate neurotransmitters and are involved with conducting electrical impulses, functional differentiation may be a major hurdle for the neurodegenerative LSDs. 

Neuronal ceroid lipofuscinosis lipofliscin cytoplasmic amyloid... 

Breast cancer, neuronal ceroid lipofuscinosis type 10... 

Passini MA, Dodge JC, Bu J, Yang W, Zhao Q, Sondhi D, Hackett NR, Kaminsky SM, Mao Q, Shihabuddin LS, Cheng SH, Sleat DE, Stewart GR, Davidson BE, Lobel P, Crystal RG. Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis. J Neurosci 2006 26 1334-1342. 

Results of in vivo genotoxicity tests have been both negative and positive (Table 3-5). Chromosomal aberrations and sister chromatid exchanges in lymphocytes were not increased in nine neuronal ceroid lipofuscinosis patients treated with intramuscular sodium selenite injections or tablets (0.005-0.05 mg... 

Additional causes of dementia are Lafora disease, neuronal ceroid lipofuscinosis, adrenoleukodystrophy, and others. Key histologic features of these diseases are outside the scope of this chapter and are covered in... 

Lu J.Y., Verkruyse L.A., Hofmann S.L., Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase. Proceedings of the National Academy of Sciences of the United States of America 93 (1996) 10046-10050. 

Steiner R., Koch T., Al-Uzri A., Uchida N., Tamaki S., Tsukamoto A., Guillaume D., Selden N., Molecular Genetics and Metabolism A phase I clinical study of human CNS stem cells (HUCNS-SC) in patients with neuronal ceroid lipofuscinosis, in Elsevier (Ed.), Molecular genetics and metabolism, Elsevier, 2007, p. 17. 

Das, A.K. et al.. Biochemical analysis of mutations in pabnitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. Hum. Mol. Genet., 10,1431, 2001. 

Neuronal ceroid lipofuscinosis, or Familial amaurotic idiocy (a sphingolipidosis). Types Santa-vuoii (infantiie), Jansky-Blelschowsky (late infantile), Batten-Splelmeyer-Vogt (juvenile), Kttfs (adult). 

Neuronal ceroid lipofuscinosis see Lysosomal storage diseases. 

Furuhashi, A. et al., 1994. Effects of AETT-induced neuronal ceroid lipofuscinosis on learning ability in rats. Jpn. J. Psychiatry Neurol., 48 645-653. 

A defect of a membrane-bound protein (CLN3 protein) has been found in juvenile neuronal ceroid lipofuscinosis. The function of CLN3 protein has not yet been elucidated. 

Patients with juvenile neuronal ceroid lipofuscinosis show symptoms similar to those of the late infantile type (LINCL), but the progression is slower. In their twenties, affected individuals experience signs of parkinsonism, behavioral problems and psychological abnormalities. 

Infantile neuronal ceroid lipofuscinosis (CLNl) Palmitoyl protein thio-esterase 1 (PPTl) lp32 256730... 

Juvenile neuronal ceroid lipofuscinosis (CLN3) Membrane protein 16pl2.1 204200... 

Fig. 22.2. Lysosomal catabolism of membrane-associated/ hydrophobic proteins. In infantile neuronal ceroid lipofuscinosis (CLNl) palmitoyl protein thioesterase is deficient (22.4.1). Late infantile neuronal lipofuscinosis (CLN2) is due to a defect in tripeptidyl peptidase I (22.4.2). Sub C = subunit C of ATP synthase complex. CLN3 protein = membrane protein of unknown function. It probably contributes to the disposal of organella membranes, it is defective in juvenile neuronal ceroid lipofuscinosis (CLN3, 22.4.3)...

Neuronal ceroid-lipofuscinosis, infantile 22.4.2 Neuronal ceroid-lipofuscinosis> late infantile 22.4.3 Neuronal ceroid-lipofuscinosis, juvenile... 

In neuronal ceroid lipofuscinosis the diagnosis may be based on the demonstration of a characteristic ultrastructural pattern in lymphocytes and/or nerve cells alone. The diagnosis can be confirmed by mutation analysis. 

Fig. 22.7. In the several types of neuronal ceroid lipofuscinosis, the diagnosis is based on characteristic clinical features (visual loss and progressive mental retardation) and on the demonstration of ultrastructural changes in several cell types (nerve cells, lymphocytes). Mutation analysis enables the definitive diagnosis...

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