| H00149 | |
| H番号 | H00149 |
| 名称 | 神経セロイドリポフスチン症 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症, ライソゾーム病 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | セルリポナーゼアルファ [DR:D10813] |
| コメント | - |
| リンク | 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 |
| 文献 | PMID:15965709 著者 Mole SE, Williams RE, Goebel HH タイトル Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. 雑誌 Neurogenetics 6:107-26 (2005) DOI:10.1007/s10048-005-0218-3 PMID:11548735 著者 Wisniewski KE, Zhong N, Philippart M タイトル Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. 雑誌 Neurology 57:576-81 (2001) DOI:10.1212/WNL.57.4.576 PMID:19195801 著者 Kohlschutter A, Schulz A タイトル Towards understanding the neuronal ceroid lipofuscinoses. 雑誌 Brain Dev 31:499-502 (2009) DOI:10.1016/j.braindev.2008.12.008 PMID:7637805 (PPT1) 著者 Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L タイトル Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. 雑誌 Nature 376:584-7 (1995) DOI:10.1038/376584a0 PMID:9295267 (TPP1) 著者 Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P タイトル Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. 雑誌 Science 277:1802-5 (1997) DOI:10.1126/science.277.5333.1802 PMID:7553855 (CLN3) タイトル Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. 雑誌 Cell 82:949-57 (1995) DOI:10.1016/0092-8674(95)90274-0 PMID:11791207 (CLN6) 著者 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 タイトル Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. 雑誌 Am J Hum Genet 70:324-35 (2002) DOI:10.1086/338190 PMID:22073189 (DNAJC5) 著者 Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C タイトル Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. 雑誌 PLoS One 6:e26741 (2011) DOI:10.1371/journal.pone.0026741 PMID:9662406 (CLN5) 著者 Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L タイトル CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 雑誌 Nat Genet 19:286-8 (1998) DOI:10.1038/975 PMID:17564970 (MSFD8) 著者 Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE タイトル The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 雑誌 Am J Hum Genet 81:136-46 (2007) DOI:10.1086/518902 PMID:10508524 (CLN8) 著者 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 タイトル The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. 雑誌 Nat Genet 23:233-6 (1999) DOI:10.1038/13868 PMID:16685649 (CTSD) 著者 Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Bruck W, Saftig P, Gartner J タイトル Cathepsin D deficiency is associated with a human neurodegenerative disorder. 雑誌 Am J Hum Genet 78:988-98 (2006) DOI:10.1086/504159 PMID:22608501 (GRN) 著者 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 タイトル Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 雑誌 Am J Hum Genet 90:1102-7 (2012) DOI:10.1016/j.ajhg.2012.04.021 PMID:22388936 (ATP13A2) 著者 Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ タイトル Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. 雑誌 Hum Mol Genet 21:2646-50 (2012) DOI:10.1093/hmg/dds089 PMID:23297359 (CTSF) 著者 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 タイトル Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. 雑誌 Hum Mol Genet 22:1417-23 (2013) DOI:10.1093/hmg/dds558 PMID:22748208 (KCTD7) 著者 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 タイトル A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. 雑誌 Am J Hum Genet 91:202-8 (2012) DOI:10.1016/j.ajhg.2012.05.023 |