{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T10:56:51Z","timestamp":1773053811632,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T00:00:00Z","timestamp":1764115200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T00:00:00Z","timestamp":1764115200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We describe a novel homozygous intragenic deletion in the\n                    <jats:italic>ALS2<\/jats:italic>\n                    gene in an 8\u2010year\u2010old boy with Infantile\u2010onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of\n                    <jats:italic>ALS2<\/jats:italic>\n                    \u2010related disorders. Comprehensive neurological evaluation, chromosomal microarray analysis (CMA), and trio\u2010based whole exome sequencing (WES) were performed. CMA revealed a run of homozygosity (ROH) at 2q33.1. WES identified a homozygous deletion encompassing exons 24\u201325 of\n                    <jats:italic>ALS2<\/jats:italic>\n                    , inherited from heterozygous parents. This clinical phenotype was consistent with the IAHSP\n                    <jats:italic>spectrum<\/jats:italic>\n                    , and no previous cases due to intragenic deletion have been reported. Our findings further expand the mutational\n                    <jats:italic>spectrum<\/jats:italic>\n                    of\n                    <jats:italic>ALS2<\/jats:italic>\n                    \u2010related disorders and underscore the relevance of combining CMA and WES in the diagnostic workup of early\u2010onset motor disorders, particularly in consanguineous families and unresolved cases. Greater awareness of rare intragenic deletions may improve early recognition and facilitate accurate genetic counseling in pediatric neurogenetics.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70010","type":"journal-article","created":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T12:01:01Z","timestamp":1764158461000},"page":"929-936","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Infantile\u2010Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous\n                    <scp>\n                      <i>ALS2<\/i>\n                    <\/scp>\n                    Exons 24\u201325 Deletion: Expanding the Genotypic\n                    <scp>\n                      <i>Spectrum<\/i>\n                    <\/scp>"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9660-7397","authenticated-orcid":false,"given":"Vito Luigi","family":"Colona","sequence":"first","affiliation":[{"name":"Unit of Neurorehabilitation Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Gnazzo","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5514-5018","authenticated-orcid":false,"given":"Silvia","family":"Genovese","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gessica","family":"Vasco","sequence":"additional","affiliation":[{"name":"Unit of Neurorehabilitation Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome 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