KEGG DISEASE: 神経セロイドリポフスチン症

DISEASE: 神経セロイドリポフスチン症

エントリ

H00149

名称

神経セロイドリポフスチン症

下位グループ

Santavuori-Haltia 病 [DS:H02277]
Jansky-Bielschowsky 病 [DS:H02278]
バッテン病 [DS:H02275]
Kufs 病 [DS:H02276]
カテプシンD 欠損 [DS:H02279]

上位グループ

進行性ミオクローヌスてんかん [DS:H00810]
ライソゾーム病 (リソソーム蓄積症) [DS:H01425]

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

階層分類

ICD-11 による疾患分類 [BR:jp08403]
05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C56  ライソゾーム病
     H00149  神経セロイドリポフスチン症

パスウェイ

hsa04142

Lysosome

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]

治療薬

セルリポナーゼアルファ [DR:D10813]

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

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