{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T19:02:40Z","timestamp":1740164560532,"version":"3.37.3"},"reference-count":40,"publisher":"Wiley","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Neurological Medicine"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>Here we report the case of an ALS patient found to carry both a novel heterozygous change (c.194G&gt;A) within the spastin gene and a homozygous deletion of the SMN2 gene. The patient was started on valproic acid (VPA, 600\u2009mg\/die per os) considering the capacity of this drug of increasing survival motor neuron through an epigenetic mechanism. Patient clinical course and molecular effects of VPA on skin fibroblasts obtained from the proband are described. This c.194G&gt;A spastin mutation might expand the previously known borders of type 4 spastic paraplegia (SPG4) and we suggest the intriguing possibility that the absence of SMN2 might have acted as a contributory risk factor for starting lower motor neuron damage. Exploring the relationship genocopy-phenocopy in selected ALS patients might represent an interesting strategy for understanding its clinical variability.<\/jats:p>","DOI":"10.1155\/2014\/216094","type":"journal-article","created":{"date-parts":[[2014,7,17]],"date-time":"2014-07-17T17:03:54Z","timestamp":1405616634000},"page":"1-7","source":"Crossref","is-referenced-by-count":1,"title":["Valproate Treatment in an ALS Patient Carrying a c.194G&gt;A Spastin Mutation and SMN2 Homozygous Deletion"],"prefix":"10.1155","volume":"2014","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0473-6560","authenticated-orcid":true,"given":"Lucio","family":"Tremolizzo","sequence":"first","affiliation":[{"name":"Section of Neurology, Ospedale San Gerardo and DCMT, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Via Pergolesi 33, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3573-7523","authenticated-orcid":true,"given":"Gessica","family":"Sala","sequence":"additional","affiliation":[{"name":"Section of Neurology, Ospedale San Gerardo and DCMT, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Via Pergolesi 33, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8308-9084","authenticated-orcid":true,"given":"Elisa","family":"Conti","sequence":"additional","affiliation":[{"name":"Section of Neurology, Ospedale San Gerardo and DCMT, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Via Pergolesi 33, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Rodriguez-Menendez","sequence":"additional","affiliation":[{"name":"Section of Neurology, Ospedale San Gerardo and DCMT, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Via Pergolesi 33, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Fogli","sequence":"additional","affiliation":[{"name":"Medical Genetics, A.O.U. Pisana, Ospedale Santa Chiara, Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0173-325X","authenticated-orcid":true,"given":"Angela","family":"Michelucci","sequence":"additional","affiliation":[{"name":"Medical Genetics, A.O.U. Pisana, Ospedale Santa Chiara, Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Simi","sequence":"additional","affiliation":[{"name":"Medical Genetics, A.O.U. Pisana, Ospedale Santa Chiara, Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Penco","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Laboratory Medicine, Fondazione Serena, Ospedale Niguarda Ca\u2019 Granda, Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4788-1875","authenticated-orcid":true,"given":"Christian","family":"Lunetta","sequence":"additional","affiliation":[{"name":"NEuroMuscular Omnicentre (NEMO), Fondazione Serena, Ospedale Niguarda Ca\u2019 Granda, Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Corbo","sequence":"additional","affiliation":[{"name":"NEuroMuscular Omnicentre (NEMO), Fondazione Serena, Ospedale Niguarda Ca\u2019 Granda, Milano, Italy"},{"name":"Department of Neurorehabilitation Sciences, Casa Cura Policlinico, Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7499-6600","authenticated-orcid":true,"given":"Carlo","family":"Ferrarese","sequence":"additional","affiliation":[{"name":"Section of Neurology, Ospedale San Gerardo and DCMT, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Via Pergolesi 33, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1080\/146608200300079536"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0032768"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12117"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1080\/14660820410021267"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1080\/17482960801900172"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318249f697"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21832"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-12-96"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000174472.03292.dd"},{"issue":"4","key":"10","first-page":"368","volume":"40","year":"2010","journal-title":"Annals of Clinical and Laboratory Science"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.255"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10743"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1080\/14660820510033614"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi130"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1002\/emmm.201202303"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1159\/000121390"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1016\/j.pnpbp.2012.04.016"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.3109\/17482968.2011.611139"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.3109\/21678421.2013.851247"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000223315.62404.00"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000167130.31618.0a"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh232"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000233830.85206.1e"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2014.02.026"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.6.749"},{"key":"27","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2009.200253"},{"issue":"11","key":"28","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.2174\/13816128113199990535","volume":"20","year":"2014","journal-title":"Current Pharmaceutical Design"},{"key":"29","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.262658999"},{"key":"30","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2004.11.046"},{"key":"31","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000231139.26253.d0"},{"key":"32","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2377-11-36"},{"key":"33","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21620"},{"issue":"2","key":"34","first-page":"187","volume":"49","year":"2013","journal-title":"Muscle & Nerve"},{"key":"35","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds437"},{"key":"36","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1639-11.2011"},{"key":"37","doi-asserted-by":"publisher","DOI":"10.3109\/21678421.2013.764568"},{"key":"38","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23673"},{"key":"39","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2013.07.033"},{"key":"40","doi-asserted-by":"publisher","DOI":"10.1038\/nature09230"},{"key":"41","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2012.08.025"}],"container-title":["Case Reports in Neurological Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crinm\/2014\/216094.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crinm\/2014\/216094.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crinm\/2014\/216094.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,22]],"date-time":"2017-06-22T12:55:42Z","timestamp":1498136142000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crinm\/2014\/216094\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":40,"alternative-id":["216094","216094"],"URL":"https:\/\/doi.org\/10.1155\/2014\/216094","relation":{},"ISSN":["2090-6668","2090-6676"],"issn-type":[{"type":"print","value":"2090-6668"},{"type":"electronic","value":"2090-6676"}],"subject":[],"published":{"date-parts":[[2014]]}}}