| H00810 | |
| H番号 | H00810 |
| 名称 | 進行性ミオクローヌスてんかん |
| 概要 | Progressive myoclonic epilepsy (EPM) is a syndrome complex characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. PME is a disease that afflicts previously normal children with ever-worsening and soon-intractable myoclonus and epilepsy, usually associated with neurodegeneration, and eventual dementia and early death. PME include Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis (cherry-red spot myoclonus), Dentatorubro-pallidoluysian atrophy (DRPLA), and type III Gaucher disease. Almost all the autosomal recessively inherited PMEs are lysosomal diseases, with the exception of Lafora disease in which neither the accumulating material nor the gene products are in lysosomes. PME also occurs in various forms of mitochondrial encephalomyopathies, especially in myoclonic epilepsy with ragged-red fibers (MERRF). |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (EPM1A) CSTB [HSA:1476] [KO:K13907] (EPM1B) PRICKLE1 [HSA:144165] [KO:K04511] (EPM2A) EPM2A [HSA:7957] [KO:K14165] (EPM2B) NHLRC1 [HSA:378884] [KO:K10602] (EPM3) KCTD7 [HSA:154881] [KO:K21917] (EPM4) SCARB2 [HSA:950] [KO:K12384] (EPM6) GOSR2 [HSA:9570] [KO:K08496] (EPM7) KCNC1 [HSA:3746] [KO:K04887] (EPM8) CERS1 [HSA:10715] [KO:K04710] (EPM9) LMNB2 [HSA:84823] [KO:K07611] (EPM10) PRDM8 [HSA:56978] [KO:K20797] (EPM11) SEMA6B [HSA:10501] [KO:K06842] (EPM12) SLC7A6OS [HSA:84138] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A61.41 ICD-10: G40.3 MeSH: D020191 OMIM: 254800 612437 254780 611726 254900 614018 616187 616230 616540 616640 618876 619191 |
| 文献 | PMID:20739785 著者 Satishchandra P, Sinha S タイトル Progressive myoclonic epilepsy. 雑誌 Neurol India 58:514-22 (2010) DOI:10.4103/0028-3886.68660 PMID:19469843 著者 Ramachandran N, Girard JM, Turnbull J, Minassian BA タイトル The autosomal recessively inherited progressive myoclonus epilepsies and their genes. 雑誌 Epilepsia 50 Suppl 5:29-36 (2009) DOI:10.1111/j.1528-1167.2009.02117.x PMID:20301774 著者 Fox MH, Bassuk AG タイトル PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia 雑誌 GeneReviews (1993) PMID:8596935 (EPM1A) 著者 Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM タイトル Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) 雑誌 Science 271:1731-4 (1996) DOI:10.1126/science.271.5256.1731 PMID:18976727 (EPM1B) 著者 Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI タイトル A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. 雑誌 Am J Hum Genet 83:572-81 (2008) DOI:10.1016/j.ajhg.2008.10.003 PMID:9771710 (EPM2A) 著者 Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC 3rd, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW タイトル Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. 雑誌 Nat Genet 20:171-4 (1998) DOI:10.1038/2470 PMID:12958597 (EPM2B) 著者 Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW タイトル Mutations in NHLRC1 cause progressive myoclonus epilepsy. 雑誌 Nat Genet 35:125-7 (2003) DOI:10.1038/ng1238 PMID:21710140 (EPM3) 著者 Azizieh R, Orduz D, Van Bogaert P, Bouschet T, Rodriguez W, Schiffmann SN, Pirson I, Abramowicz MJ タイトル Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons. 雑誌 Mol Neurobiol 44:111-21 (2011) DOI:10.1007/s12035-011-8194-0 PMID:18308289 (EPM4) 著者 Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lullmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M タイトル Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. 雑誌 Am J Hum Genet 82:673-84 (2008) DOI:10.1016/j.ajhg.2007.12.019 PMID:21549339 (EPM6) 著者 Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF タイトル A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 雑誌 Am J Hum Genet 88:657-63 (2011) DOI:10.1016/j.ajhg.2011.04.011 PMID:25401298 (EPM7) 著者 Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Moller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE タイトル A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 雑誌 Nat Genet 47:39-46 (2015) DOI:10.1038/ng.3144 PMID:19243074 (EPM8) 著者 Ferlazzo E, Italiano D, An I, Calarese T, Laguitton V, Bramanti P, Di Bella P, Genton P タイトル Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment. 雑誌 Mov Disord 24:1016-22 (2009) DOI:10.1002/mds.22489 PMID:25954030 (EPM9) 著者 Damiano JA, Afawi Z, Bahlo M, Mauermann M, Misk A, Arsov T, Oliver KL, Dahl HH, Shearer AE, Smith RJ, Hall NE, Mahmood K, Leventer RJ, Scheffer IE, Muona M, Lehesjoki AE, Korczyn AD, Herrmann H, Berkovic SF, Hildebrand MS タイトル Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. 雑誌 Hum Mol Genet 24:4483-90 (2015) DOI:10.1093/hmg/ddv171 PMID:22961547 (EPM10) 著者 Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, Ackerley CA, Minassian BA タイトル Early-onset Lafora body disease. 雑誌 Brain 135:2684-98 (2012) DOI:10.1093/brain/aws205 PMID:32169168 (EPM11) 著者 Hamanaka K, Imagawa E, Koshimizu E, Miyatake S, Tohyama J, Yamagata T, Miyauchi A, Ekhilevitch N, Nakamura F, Kawashima T, Goshima Y, Mohamed AR, Ch'ng GS, Fujita A, Azuma Y, Yasuda K, Imamura S, Nakashima M, Saitsu H, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Matsumoto N タイトル De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. 雑誌 Am J Hum Genet 106:549-558 (2020) DOI:10.1016/j.ajhg.2020.02.011 PMID:33085104 (EPM12) 著者 Mazzola L, Oliver KL, Labalme A, Baykan B, Muona M, Joensuu TH, Courage C, Chatron N, Borsani G, Alix E, Ramond F, Touraine R, Bahlo M, Bebek N, Berkovic SF, Lehesjoki AE, Lesca G タイトル Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS. 雑誌 Ann Neurol 89:402-407 (2021) DOI:10.1002/ana.25941 |