{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T17:04:36Z","timestamp":1784307876140,"version":"3.55.0"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T00:00:00Z","timestamp":1782000000000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) is a rare autosomal recessive neurodevelopmental disorder linked to biallelic variants in the\n                    <jats:italic>SLC1A4<\/jats:italic>\n                    gene, which encodes the ASCT1 amino acid transporter critical for neutral amino acid uptake in neurons. While\n                    <jats:italic>SLC1A4<\/jats:italic>\n                    mutations are well established in SPATCCM, the potential impact of additional genetic factors on disease progression remains unexplored. We report a rare case of an 8\u2010month\u2010old male with severe global developmental delay and progressive microcephaly, identified with whole\u2010exome sequencing to have a novel combination of homozygous\n                    <jats:italic>SLC1A4<\/jats:italic>\n                    (p.Arg457Trp) and heterozygous\n                    <jats:italic>APOE<\/jats:italic>\n                    (p.Cys130Arg) mutations. Neuroimaging revealed severe hypomyelination and diffuse white matter abnormalities. This is the first reported case of SPATCCM with an\n                    <jats:italic>APOE<\/jats:italic>\n                    variant, implicating a potential interplay between amino acid transport deficiencies and lipid metabolism in brain development.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.73014","type":"journal-article","created":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T03:34:50Z","timestamp":1782099290000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report of Dual Variants in\n                    <scp>\n                      <i>SLC1A4<\/i>\n                    <\/scp>\n                    and\n                    <scp>\n                      <i>APOE<\/i>\n                    <\/scp>\n                    : A Possible Link Between Amino Acid and Lipid Metabolism"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-9965-8041","authenticated-orcid":false,"given":"Mohammed","family":"Qaisiya","sequence":"first","affiliation":[{"name":"Faculty of Pharmacy, Department of Medical Laboratory Science Hebron University  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-6029-9328","authenticated-orcid":false,"given":"Kenana","family":"Altell","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Pediatric Neurology Hebron University  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-1721-0038","authenticated-orcid":false,"given":"Wasef","family":"Alhroub","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Pediatric Neurology Hebron University  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud","family":"Ramlawe","sequence":"additional","affiliation":[{"name":"Faculty of Pharmacy, Department of Medical Laboratory Science Hebron University  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7431-2224","authenticated-orcid":false,"given":"Elisabetta","family":"Battocchio","sequence":"additional","affiliation":[{"name":"CNR Institute of Neuroscience  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9589-4662","authenticated-orcid":false,"given":"Fabrizia","family":"Guarnieri","sequence":"additional","affiliation":[{"name":"CNR Institute of Neuroscience  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mu'taz","family":"Altamimi","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Pediatric Neurology Hebron University  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,21]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12605"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103104"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12637"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.44"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/01677063.2018.1476510"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2022.107283"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104263"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/2329048X19880647"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2023.1183574"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51786"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1722677115"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2021.726665"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pneurobio.2020.101896"},{"key":"e_1_2_14_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.csbj.2021.09.015"},{"key":"e_1_2_14_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-024-00988-2"},{"key":"e_1_2_14_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002939"},{"key":"e_1_2_14_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2019.04.011"},{"key":"e_1_2_14_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.4544"},{"key":"e_1_2_14_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms26052104"},{"key":"e_1_2_14_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-023-10013-4"},{"key":"e_1_2_14_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awae134"},{"key":"e_1_2_14_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-013-9592-4"},{"key":"e_1_2_14_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.06.029"},{"key":"e_1_2_14_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbapap.2007.08.015"},{"key":"e_1_2_14_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.plipres.2008.01.003"},{"key":"e_1_2_14_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/ejn.15685"},{"key":"e_1_2_14_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2007.07.024"},{"key":"e_1_2_14_29_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0811879106"},{"key":"e_1_2_14_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2003.10.010"}],"container-title":["Clinical 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