{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T01:51:25Z","timestamp":1791165085678,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T00:00:00Z","timestamp":1424217600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2015,3]]},"abstract":"Abstract<\/jats:title>\n \n Mutations in the fatty\u2010acid 2\u2010hydroxylase (\n \n FA<\/jats:styled-content>\n 2H\n <\/jats:italic>\n ) gene cause an autosomal recessive spastic paraplegia (\n SPG<\/jats:styled-content>\n 35), often associating with cerebellar ataxia; cerebral\n MRI<\/jats:styled-content>\n may show iron accumulation in the basal ganglia, leading to the inclusion of\n SPG<\/jats:styled-content>\n 35 among the causes of neurodegeneration with brain iron accumulation. This finding was initially considered strongly relevant for diagnosis, although its frequency is not yet established. We found 5 novel patients (from two families) with mutations in the\n \n FA<\/jats:styled-content>\n 2H\n <\/jats:italic>\n gene: none of them showed cerebral iron accumulation (T2\u2010weighted images performed in all; T2 gradient\u2010echo in 2); notably, in 1 case, iron accumulation was absent even after 18\u00a0years from disease onset on both T2 gradient\u2010echo and susceptibility\u2010weight\n MRI<\/jats:styled-content>\n sequences. Cerebral iron accumulation is not a prominent feature in\n SPG<\/jats:styled-content>\n 35 and is not always dependent on disease duration; its absence should not discourage from evoking this diagnosis.\n <\/jats:p>","DOI":"10.1002\/mdc3.12118","type":"journal-article","created":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T06:19:06Z","timestamp":1424240346000},"page":"56-60","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Cerebral Iron Accumulation Is Not a Major Feature of\n \n FA<\/scp>\n 2H\n <\/i>\n \/\n SPG<\/scp>\n 35"],"prefix":"10.1002","volume":"2","author":[{"given":"Cecilia","family":"Marelli","sequence":"first","affiliation":[{"name":"Department of Neurology University Hospital Gui de Chauliac Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa A.","family":"Salih","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology Department of Pediatrics College of Medicine King Saud University Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Hospital \u201cTimone Enfants\u201d Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martial","family":"Mallaret","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Cellular and Molecular Biology INSERM U964 CNRS UMR7104 University of Strasbourg Illkirch France"},{"name":"Department of Neurology Strasbourg University Hospital Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Leboucq","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology University Hospital Gui de Chauliac Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamdy H.","family":"Hassan","sequence":"additional","affiliation":[{"name":"Department of Radiology King Khalid University Hospital and College of Medicine King Saud University Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Drouot","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Cellular and Molecular Biology INSERM U964 CNRS UMR7104 University of Strasbourg Illkirch France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Labauge","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital Gui de Chauliac Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Koenig","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Cellular and Molecular Biology INSERM U964 CNRS UMR7104 University of Strasbourg Illkirch France"},{"name":"University Institute of Clinical Research INSERM UMR_S 827 and Laboratoire de Genetique Moleculaire University Hospital Montpellier 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