{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T18:08:31Z","timestamp":1777486111176,"version":"3.51.4"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,2,22]],"date-time":"2016-02-22T00:00:00Z","timestamp":1456099200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Telethon Italy","award":["GGP14066"],"award-info":[{"award-number":["GGP14066"]}]},{"name":"Foundation Achille Lattuca"},{"name":"Italian Ministry of Health"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Neutral lipid\u2010storage disease with myopathy is caused by mutations in <jats:italic>PNPLA2<\/jats:italic>, which produce skeletal and cardiac myopathy. We report a man with multiorgan neutral lipid storage and unusual multisystem clinical involvement, including cognitive impairment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Quantitative brain MRI with voxel\u2010based morphometry and extended neuropsychological assessment were performed. In parallel, the coding sequences and intron\/exon boundaries of the <jats:italic>PNPLA2<\/jats:italic> gene were screened by direct sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Neuropsychological assessment revealed global cognitive impairment, and brain MRI showed reduced gray matter volume in the temporal lobes. Molecular characterization revealed a novel homozygous mutation in exon 5 of <jats:italic>PNPLA2<\/jats:italic> (c.714C&gt;A), resulting in a premature stop codon (p.Cys238*).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Some <jats:italic>PNPLA2<\/jats:italic> mutations, such as the one described here, may present with an extended phenotype, including brain involvement. In these cases, complete neuropsychological testing, combined with quantitative brain MRI, may help to characterize and quantify cognitive impairment. <jats:italic>Muscle Nerve<\/jats:italic> 53: 644\u2013648, 2016<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.24983","type":"journal-article","created":{"date-parts":[[2015,11,24]],"date-time":"2015-11-24T16:34:26Z","timestamp":1448382866000},"page":"644-648","source":"Crossref","is-referenced-by-count":14,"title":["Neutral lipid\u2010storage disease with myopathy and extended phenotype with novel <i>PNPLA2<\/i> mutation"],"prefix":"10.1002","volume":"53","author":[{"given":"Roberto","family":"Massa","sequence":"first","affiliation":[{"name":"Department of Systems Medicine (Neurology) University of Rome Tor Vergata Via Montpellier 1 00133 Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Pozzessere","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Interna e Specialit\u00e0 Mediche Sapienza Universit\u00e0 di Roma Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuele","family":"Rastelli","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine (Neurology) University of Rome Tor Vergata Via Montpellier 1 00133 Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Serra","sequence":"additional","affiliation":[{"name":"Neuroimaging Laboratory, IRCCS Santa Lucia Foundation Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Terracciano","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine (Neurology) University of Rome Tor Vergata Via Montpellier 1 00133 Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Gibellini","sequence":"additional","affiliation":[{"name":"Department of Systems Medicine (Neurology) University of Rome Tor Vergata Via Montpellier 1 00133 Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Bozzali","sequence":"additional","affiliation":[{"name":"Neuroimaging Laboratory, IRCCS Santa Lucia Foundation Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcello","family":"Arca","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Interna e Specialit\u00e0 Mediche Sapienza Universit\u00e0 di Roma Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,2,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1951"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.E004770"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.631"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5957.553"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2008.10.081"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/nimg.2001.0961"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2005.02.018"},{"key":"e_1_2_7_9_1","first-page":"1487","volume":"31","author":"Smith SM","year":"2006","journal-title":"Tract\u2010based spatial statistics: voxelwise analysis of multi\u2010subject diffusion data. Neuroimage"},{"key":"e_1_2_7_10_1","first-page":"627","volume":"21","author":"Serra L","year":"2010","journal-title":"Are the behavioral symptoms of Alzheimer's disease directly associated with neurodegeneration? J Alzheimers Dis"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-2012-121663"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2247"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-6055-4"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.04.004"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20869"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.84"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2012.10.127"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.06.382"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.08.008"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.12.004"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.5414\/NPP29351"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1444"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.113.300944"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.04.001"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.2600"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds388"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24477"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2008.03.010"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2011.07498.x"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M710566200"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.256"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24983","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.24983","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T18:08:16Z","timestamp":1695492496000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.24983"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,22]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,4]]}},"alternative-id":["10.1002\/mus.24983"],"URL":"https:\/\/doi.org\/10.1002\/mus.24983","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,22]]}}}