KEGG DISEASE: Neuronal ceroid lipofuscinosis

KEGG

DISEASE: Neuronal ceroid lipofuscinosis

Entry

H00149                      Disease

Name

Neuronal ceroid lipofuscinosis

Subgroup

Santavuori-Haltia disease [DS:H02277]
Jansky-Bielschowsky disease [DS:H02278]
Batten disease [DS:H02275]
Kufs disease [DS:H02276]
Cathepsin D deficiency [DS:H02279]

Supergrp

Progressive myoclonic epilepsy [DS:H00810]
Lysosomal storage disease [DS:H01425]

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00149  Neuronal ceroid lipofuscinosis

Pathway

Lysosome

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]

Drug

Cerliponase alfa [DR:D10813]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

256730 204500 204200 204300 256731 601780 610951 600143 610003 609055 610127 162350 614706 606693 615362 611726

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

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