{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:07:08Z","timestamp":1791900428586,"version":"4.3.4"},"reference-count":58,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2001,9,20]],"date-time":"2001-09-20T00:00:00Z","timestamp":1000944000000},"content-version":"vor","delay-in-days":111,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2001,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The genetic progressive myoclonus epilepsies (PMEs) are clinically characterized by the triad of stimulus sensitive myoclonus (segmental lightning like muscular jerks), epilepsy (grand mal and absences) and progressive neurologic deterioration (dementia, ataxia, and various neurologic signs depending on the cause). Etiologically heterogenous, PMEs are rare and mostly autosomal recessive disorders, with the exception of autosomal dominant dentatorubral\u2010pallidoluysian atrophy and mitochondrial encephalomyopathy with ragged red fibers (MERRF). In the last five years, specific mutations have been defined in Lafora disease (gene for laforin or dual specificity phosphatase in 6q24), Unverricht\u2010Lundborg disease (cystatin B in 21q22.3), Jansky\u2010Bielschowsky ceroid lipofuscinoses (CLN2 gene for tripeptidyl peptidase 1 in 11q15), Finnish variant of late infantile ceroid lipofuscinoses (CLN5 gene in 13q21\u201032 encodes 407 amino acids with two transmembrane helices of unknown function), juvenile ceroid lipofuscinoses or Batten disease (CLN3 gene in 16p encodes 438 amino acid protein of unknown function), a subtype of Batten disease and infantile ceroid lipofuscinoses of the Haltia\u2010Santavuori type (both are caused by mutations in palmitoyl\u2010protein thiosterase gene at 1p32), dentadorubropallidoluysian atrophy (CAG repeats in a gene in 12p13.31) and the mitochondrial syndrome MERRF (tRNA Lys mutation in mitochondrial DNA). In this review, we cover mainly these rapid advances. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1575","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:25:39Z","timestamp":1033903539000},"page":"129-138","source":"Crossref","is-referenced-by-count":65,"title":["Advances in the genetics of progressive myoclonus epilepsy"],"prefix":"10.1002","volume":"106","author":[{"given":"A.V.","family":"Delgado\u2010Escueta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Subramaniam","family":"Ganesh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Yamakawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,10,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1993.tb02588.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-521"},{"key":"e_1_2_6_4_1","first-page":"1372","article-title":"Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12","volume":"49","author":"Callen DF","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00218837"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1460-9568.2000.00058.x"},{"key":"e_1_2_6_7_1","first-page":"467","volume-title":"The treatment of epilepsy: principles and practice","author":"Delgado\u2010Escueta AV","year":"1997"},{"key":"e_1_2_6_8_1","unstructured":"DiMauroS.2000.Clinical features and genetics of MERRF International Symposium on Myoclonus Paroxysmal Dyskinesias and Related Disorders. Atlanta: Aberdeen Woods Conference Center October26\u201329."},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03193.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(80)90031-3"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1999.0402"},{"key":"e_1_2_6_12_1","first-page":"A297","article-title":"The human and mouse homologues of the epilepsy gene, EPM2A: isolation and characterization of full\u2010length transcripts and mutation detection in Lafora disease families","volume":"65","author":"Ganesh S","year":"1999","journal-title":"Am J Hum Gen"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.hmg.a018916"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.2001.4914"},{"key":"e_1_2_6_15_1","unstructured":"GardinerRM.2000.Clinical features and molecular genetic basis of the neuronal ceroid lipofuscinoses International Symposium on Myoclonus Paroxysmal Dyskinesias and Related Disorders Atlanta GA: Aberdeen Woods Conference Center October26\u201329."},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(90)90297-8"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200571"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-196"},{"key":"e_1_2_6_19_1","first-page":"1135","article-title":"Dentatorubral\u2010pallidoluysian atrophy (DRPLA): its distribution in Japan and prevalence rate in Niigata","volume":"32","author":"Inazuki G","year":"1990","journal-title":"Seishin Shinkeigaku Zasshi"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90274-0"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(96)01290-2"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-9"},{"key":"e_1_2_6_23_1","first-page":"83","article-title":"The presence of amyloid bodies in the protoplasm of the ganglion cells; a contribution to the study of the amyloid substance in the nervous system","volume":"3","author":"Lafora GR","year":"1911","journal-title":"Bull Gov Hosp Insane"},{"key":"e_1_2_6_24_1","first-page":"96","article-title":"Contribution to the histopathology and pathogenesis of myoclonic epilepsy","volume":"3","author":"Lafora GR","year":"1911","journal-title":"Bull Gov Hosp Insane"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/386847a0"},{"key":"e_1_2_6_26_1","unstructured":"LehesjokiAE.2000.Clinical features and genetics of Unverricht\u2010Lundborg. International Symposium on Myoclonus Paroxysmal Dyskinesias and Related Disorders Aberdeen Woods Conference Center. Atlanta GA October26\u201329."},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.9.3696"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.8.1545"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.11.2384"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/2470"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199902)45:2<262::AID-ANA20>3.0.CO;2-9"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.2.488"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.3.341"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.2.291"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-14"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1094-177"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.8.798"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01770.x"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00225200"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.271.5256.1731"},{"key":"e_1_2_6_41_1","first-page":"486","article-title":"Increased glycogen load accelerates the course of the disease in the acid alpha\u2010glucosidase knockout mice","volume":"65","author":"Raben N","year":"1999","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_42_1","first-page":"381","volume-title":"Epileptic syndromes in infancy, childhood and adolescence","author":"Roger J","year":"1992"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1086\/301596"},{"key":"e_1_2_6_44_1","first-page":"695","article-title":"Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses","volume":"55","author":"Savukoski M","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/975"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.9.1657"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.2.345"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.4.591"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90059-N"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5333.1802"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1086\/302427"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6.3.218"},{"key":"e_1_2_6_53_1","unstructured":"TsujiS.2000.Clinical features and genetics of DRPLA. International Symposium on Myoclonus Paroxysmal Dyskinesias and Related Disorders. Atlanta: Aberdeen Woods Conference Center October26\u201329."},{"key":"e_1_2_6_54_1","first-page":"1247","article-title":"Progressive myoclonus epilepsy EPM1 locus maps to a 175 kb interval in distal 21q","volume":"58","author":"Virtaneva K","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0497-393"},{"key":"e_1_2_6_56_1","doi-asserted-by":"crossref","first-page":"14566","DOI":"10.1016\/S0021-9258(17)36661-9","article-title":"Glycogen synthase kinase 3b is a dual specificity kinase differentially regulated by tyrosine and serine\/threonine phosphorylation","volume":"20","author":"Wang QM","year":"1994","journal-title":"J Biol Chem"},{"key":"e_1_2_6_57_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870090302"},{"key":"e_1_2_6_58_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0394-225a"},{"key":"e_1_2_6_59_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0595-99"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1575","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1575","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T01:57:32Z","timestamp":1694570252000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1575"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,6]]},"references-count":58,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2001,6]]}},"alternative-id":["10.1002\/ajmg.1575"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1575","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,6]]}}}