{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:58:49Z","timestamp":1790503129647,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,11,7]],"date-time":"2012-11-07T00:00:00Z","timestamp":1352246400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:p>We sought to identify the molecular basis of the autosomal dominant form of Kufs disease, an adult onset form of neuronal ceroid lipofuscinosis. We used a combination of classic linkage analysis and Next Generation Sequencing to map and identify mutations in<jats:italic><jats:styled-content style=\"fixed-case\">DNAJC5<\/jats:styled-content><\/jats:italic>in a total of three families. We analyzed the clinical manifestations in 20 individuals with mutation in<jats:styled-content style=\"fixed-case\"><jats:italic>DNAJC5<\/jats:italic><\/jats:styled-content>. We report here the mapping and the identification of a p.L116del mutation in<jats:italic><jats:styled-content style=\"fixed-case\">DNAJC5<\/jats:styled-content><\/jats:italic>segregating with the disease in two distinct American families, as well as a p.<jats:styled-content style=\"fixed-case\">L115R<\/jats:styled-content>mutation in an additional family. The age of onset and clinical manifestations were very homogeneous among mutation positive individuals, including generalized tonic\u2013clonic seizures, myoclonus, ataxia, speech deterioration, dementia, and premature death. A few individuals also exhibited parkinsonism.<jats:styled-content style=\"fixed-case\"><jats:italic>DNAJC5<\/jats:italic><\/jats:styled-content>, which encodes the cysteine string protein (<jats:styled-content style=\"fixed-case\">CSP\u03b1<\/jats:styled-content>), a presynaptic protein implicated in neurodegeneration, causes autosomal dominant Kufs disease. The leucine residues at positions 115 and 116 are hotspots for mutations and result in a homogeneous phenotype of progressive myoclonus epilepsy with onset around 30 years old.<\/jats:p>","DOI":"10.1111\/cge.12020","type":"journal-article","created":{"date-parts":[[2012,9,15]],"date-time":"2012-09-15T05:35:26Z","timestamp":1347687326000},"page":"571-575","source":"Crossref","is-referenced-by-count":65,"title":["Recurrent mutations in<i><scp>DNAJC5<\/scp><\/i>cause autosomal dominant Kufs disease"],"prefix":"10.1111","volume":"83","author":[{"given":"M","family":"Cadieux\u2010Dion","sequence":"first","affiliation":[{"name":"CHUM Research Center University of Montreal Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Andermann","sequence":"additional","affiliation":[{"name":"Montreal Neurological Institute McGill University Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Lachance\u2010Touchette","sequence":"additional","affiliation":[{"name":"CHUM Research Center University of Montreal Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O","family":"Ansorge","sequence":"additional","affiliation":[{"name":"Department of Neuropathology John Radcliffe Hospital Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Meloche","sequence":"additional","affiliation":[{"name":"CHUM Research Center University of Montreal Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Barnab\u00e9","sequence":"additional","affiliation":[{"name":"Montreal Neurological Institute McGill University Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"RI","family":"Kuzniecky","sequence":"additional","affiliation":[{"name":"Department of Neurology Langone Medical Center, New York University New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Andermann","sequence":"additional","affiliation":[{"name":"Montreal Neurological Institute McGill University Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Faught","sequence":"additional","affiliation":[{"name":"Emory University School of Medicine Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Leonberg","sequence":"additional","affiliation":[{"name":"Rutgers Medical School and Cooper Hospital\/University Medical Center Camden NJ USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JA","family":"Damiano","sequence":"additional","affiliation":[{"name":"Epilepsy Research Center University of Melbourne, Austin Health Heidelberg VIC 3084 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SF","family":"Berkovic","sequence":"additional","affiliation":[{"name":"Epilepsy Research Center University of Melbourne, Austin Health Heidelberg VIC 3084 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GA","family":"Rouleau","sequence":"additional","affiliation":[{"name":"CHUM Research Center University of Montreal Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Cossette","sequence":"additional","affiliation":[{"name":"CHUM Research Center University of Montreal Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,11,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","unstructured":"Mole SE Williams RE. Neuronal ceroid\u2010lipofuscinoses. In:PagonRA BirdTD DolanCR StephensK AdamMP eds. Gene reviews [Internet]. Washington DC: University of Washington 2010.","DOI":"10.1007\/978-1-84882-128-6_182"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.004"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.021"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/94.4.745"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1528-1157.2003.39802.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng885"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02642.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.003"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0029729"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7906056"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0308186101"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E06-03-0183"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2005.09.028"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2131"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(04)00190-4"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0510060103"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0924-10.2010"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0036458"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1139\/O09-124"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1104-1054"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12020","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12020","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T11:08:32Z","timestamp":1714388912000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,7]]},"references-count":20,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["10.1111\/cge.12020"],"URL":"https:\/\/doi.org\/10.1111\/cge.12020","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,7]]}}}