| H00149 | |
| H number | H00149 |
| Name | Neuronal ceroid lipofuscinosis |
| Description | 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. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | - |
| Gene | (CLN1) PPT1 [HSA:5538] [KO:K01074] (CLN2) TPP1 [HSA:1200] [KO:K01279] (CLN3) CLN3 [HSA:1201] [KO:K12389] (CLN4A/6) CLN6 [HSA:54982] [KO:K12359] (CLN4B) DNAJC5 [HSA:80331] [KO:K09525] (CLN5) CLN5 [HSA:1203] [KO:K12390] (CLN7) MSFD8 [HSA:256471] [KO:K12307] (CLN8) CLN8 [HSA:2055] [KO:K12360] (CLN10) CTSD [HSA:1509] [KO:K01379] (CLN11) GRN [HSA:2896] [KO:K23879] (CLN12) ATP13A2 [HSA:23400] [KO:K13526] (CLN13) CTSF [HSA:8722] [KO:K01373] (CLN14) KCTD7 [HSA:154881] [KO:K21917] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Cerliponase alfa [DR:D10813] |
| Comment | - |
| Other DBs | ICD-11: 5C56.1 ICD-10: E75.4 MeSH: D009472 OMIM: 256730 204500 204200 204300 256731 601780 610951 600143 610003 609055 610127 162350 614706 606693 615362 611726 |
| Reference | PMID:15965709 AUTHORS Mole SE, Williams RE, Goebel HH TITLE Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. JOURNAL Neurogenetics 6:107-26 (2005) DOI:10.1007/s10048-005-0218-3 PMID:11548735 AUTHORS Wisniewski KE, Zhong N, Philippart M TITLE Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. JOURNAL Neurology 57:576-81 (2001) DOI:10.1212/WNL.57.4.576 PMID:19195801 AUTHORS Kohlschutter A, Schulz A TITLE Towards understanding the neuronal ceroid lipofuscinoses. JOURNAL Brain Dev 31:499-502 (2009) DOI:10.1016/j.braindev.2008.12.008 PMID:7637805 (PPT1) AUTHORS Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L TITLE Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. JOURNAL Nature 376:584-7 (1995) DOI:10.1038/376584a0 PMID:9295267 (TPP1) AUTHORS Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P TITLE Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. JOURNAL Science 277:1802-5 (1997) DOI:10.1126/science.277.5333.1802 PMID:7553855 (CLN3) TITLE Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. JOURNAL Cell 82:949-57 (1995) DOI:10.1016/0092-8674(95)90274-0 PMID:11791207 (CLN6) AUTHORS Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME TITLE Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. JOURNAL Am J Hum Genet 70:324-35 (2002) DOI:10.1086/338190 PMID:22073189 (DNAJC5) AUTHORS Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C TITLE Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. JOURNAL PLoS One 6:e26741 (2011) DOI:10.1371/journal.pone.0026741 PMID:9662406 (CLN5) AUTHORS Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L TITLE CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. JOURNAL Nat Genet 19:286-8 (1998) DOI:10.1038/975 PMID:17564970 (MSFD8) AUTHORS Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE TITLE The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. JOURNAL Am J Hum Genet 81:136-46 (2007) DOI:10.1086/518902 PMID:10508524 (CLN8) AUTHORS Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE TITLE The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. JOURNAL Nat Genet 23:233-6 (1999) DOI:10.1038/13868 PMID:16685649 (CTSD) AUTHORS Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Bruck W, Saftig P, Gartner J TITLE Cathepsin D deficiency is associated with a human neurodegenerative disorder. JOURNAL Am J Hum Genet 78:988-98 (2006) DOI:10.1086/504159 PMID:22608501 (GRN) AUTHORS Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, Bahlo M, Berkovic SF TITLE Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. JOURNAL Am J Hum Genet 90:1102-7 (2012) DOI:10.1016/j.ajhg.2012.04.021 PMID:22388936 (ATP13A2) AUTHORS Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ TITLE Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. JOURNAL Hum Mol Genet 21:2646-50 (2012) DOI:10.1093/hmg/dds089 PMID:23297359 (CTSF) AUTHORS Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grotzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M TITLE Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. JOURNAL Hum Mol Genet 22:1417-23 (2013) DOI:10.1093/hmg/dds558 PMID:22748208 (KCTD7) AUTHORS Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL TITLE A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. JOURNAL Am J Hum Genet 91:202-8 (2012) DOI:10.1016/j.ajhg.2012.05.023 |