{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T14:51:33Z","timestamp":1790175093541,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,4,19]],"date-time":"2017-04-19T00:00:00Z","timestamp":1492560000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["5R01NS072248"],"award-info":[{"award-number":["5R01NS072248"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1R01NS075764"],"award-info":[{"award-number":["1R01NS075764"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["5R01NS054132"],"award-info":[{"award-number":["5R01NS054132"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["2U54NS065712"],"award-info":[{"award-number":["2U54NS065712"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:p>\n<jats:styled-content style=\"fixed-case\">PLA2G6<\/jats:styled-content>\u2010associated neurodegeneration (<jats:styled-content style=\"fixed-case\">PLAN<\/jats:styled-content>) and hereditary spastic paraplegia (<jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>) are 2 groups of heterogeneous neurodegenerative diseases. In this study, we report <jats:italic>\n<jats:styled-content style=\"fixed-case\">PLA2G6<\/jats:styled-content>\n<\/jats:italic> gene mutations in 3 families from Turkey, Morocco, and Romania. Two affected Turkish siblings presenting <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content> adds the disease to <jats:styled-content style=\"fixed-case\">PLAN<\/jats:styled-content> phenotypes. They were homozygous for the <jats:italic>\n<jats:styled-content style=\"fixed-case\">PLA2G6<\/jats:styled-content>\n<\/jats:italic> missense c.<jats:styled-content style=\"fixed-case\">2239C<\/jats:styled-content>&gt;T, p.<jats:styled-content style=\"fixed-case\">Arg747Trp<\/jats:styled-content> variant and the ages of onset were 9 and 21. Parkinsonism, dystonia or cognitive decline were not the clinical elements in these patients contrary to the cases that has been previously reported with the same variant, however, iron accumulation was evident in their cranial magnetic resonance imaging. The Moroccan patient was homozygous for a novel missense c.<jats:styled-content style=\"fixed-case\">1786C<\/jats:styled-content>&gt;T, p.<jats:styled-content style=\"fixed-case\">Leu596Phe<\/jats:styled-content> variant and the Romanian patient had 2 novel mutations; c.<jats:styled-content style=\"fixed-case\">1898C<\/jats:styled-content>&gt;T, p.<jats:styled-content style=\"fixed-case\">Ala633Val<\/jats:styled-content> and c.1765_1768del, p.<jats:styled-content style=\"fixed-case\">Ser589ThrfsTer76<\/jats:styled-content>. Both of these patients conformed better to childhood onset <jats:styled-content style=\"fixed-case\">PLAN<\/jats:styled-content> with the age of onset at 4 and 7 years, respectively. Interestingly, all identified mutations were affecting the highly conserved patatin\u2010like phospholipase domain of the <jats:styled-content style=\"fixed-case\">PLA2G6<\/jats:styled-content> protein.<\/jats:p>","DOI":"10.1111\/cge.13008","type":"journal-article","created":{"date-parts":[[2017,3,14]],"date-time":"2017-03-14T20:20:00Z","timestamp":1489522800000},"page":"534-539","source":"Crossref","is-referenced-by-count":46,"title":["<scp>PLA2G6<\/scp> mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia"],"prefix":"10.1111","volume":"92","author":[{"given":"B.","family":"Ozes","sequence":"first","affiliation":[{"name":"Department of Molecular Biology and Genetics Bogazici University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Karagoz","sequence":"additional","affiliation":[{"name":"Department of Neurology Bakirkoy Training and Research Hospital for Psychiatry and Neurological Diseases  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Sch\u00fcle","sequence":"additional","affiliation":[{"name":"Department of Neurodegeneration Hertie Institute for Clinical Brain Research and Centre of Neurology  Tuebingen Germany"},{"name":"University of Tuebingen German Research Center for Neurodegenerative Diseases (DZNE)  Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Rebelo","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine  Miami Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.\u2010J.","family":"Sobrido","sequence":"additional","affiliation":[{"name":"Neurogenetics Group FPGMX\u2010IDIS  Santiago de Compostela Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Harmuth","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of Tuebingen  Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Synofzik","sequence":"additional","affiliation":[{"name":"Department of Neurodegeneration Hertie Institute for Clinical Brain Research and Centre of Neurology  Tuebingen Germany"},{"name":"University of Tuebingen German Research Center for Neurodegenerative Diseases (DZNE)  Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.I.P.","family":"Pascual","sequence":"additional","affiliation":[{"name":"Servicio de Neurologia Pedi\u00e1trica, Hospital Universitario La Paz, Prof. Asociado Departamento de Pediatria Universidad Aut\u00f3noma de Madrid  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Colak","sequence":"additional","affiliation":[{"name":"Department of Neurology Bakirkoy Training and Research Hospital for Psychiatry and Neurological Diseases  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Ciftci\u2010Kavaklioglu","sequence":"additional","affiliation":[{"name":"Department of Neurology Bakirkoy Training and Research Hospital for Psychiatry and Neurological Diseases  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Kara","sequence":"additional","affiliation":[{"name":"Department of Radiology Bakirkoy Dr. Sadi Konuk Training and Research Hospital  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Ord\u00f3\u00f1ez\u2010Ugalde","sequence":"additional","affiliation":[{"name":"Neurogenetics Group FPGMX\u2010IDIS  Santiago de Compostela Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Quint\u00e1ns","sequence":"additional","affiliation":[{"name":"Neurogenetics Group FPGMX\u2010IDIS  Santiago de Compostela Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.A.","family":"Gonzalez","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine  Miami Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Soysal","sequence":"additional","affiliation":[{"name":"Department of Neurology Bakirkoy Training and Research Hospital for Psychiatry and Neurological Diseases  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Zuchner","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. 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