{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T07:38:33Z","timestamp":1777016313477,"version":"3.51.4"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T00:00:00Z","timestamp":1773100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T00:00:00Z","timestamp":1773100800000},"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":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Hereditary spastic paraplegias are a diverse group of neurodegenerative diseases, clinically divided into pure and complex types. Spastic paraplegia 48 is caused by pathogenic biallelic variants in the\n                      <jats:italic>AP5Z1<\/jats:italic>\n                      gene. Our study aims to expand the phenotypic and genotypic spectrum in this very rare syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods<\/jats:title>\n                    <jats:p>Case files, detailed anamnesis, radiological imaging, physical examination findings, ophthalmological examination and genetic results were evaluated as part of the clinical assessment. Whole\u2010exome sequencing was performed for the proband. Sanger sequencing and next\u2010generation sequencing were performed for confirmation of the variants and segregation analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified two disease\u2010causing variants in the\n                      <jats:italic>AP5Z1<\/jats:italic>\n                      (NM_014855.3) gene, including a pathogenic nonsense variant (c.1322G\u2009&gt;\u2009A, p.(Trp441Ter)) and a pathogenic frameshift variant (c.857_866del, p.(Leu286ProfsTer25)). Segregation analysis showed compound heterozygosity of the variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      In this report, we present a patient from Turkey with spasticity, who has compound heterozygous variants in the\n                      <jats:italic>AP5Z1<\/jats:italic>\n                      gene, representing the 17th case described in the literature. This report expands the phenotypic spectrum of the\n                      <jats:italic>AP5Z1<\/jats:italic>\n                      \u2010related spastic paraplegia type 48, which has only rarely been reported in the literature. It underscores the importance of comprehensive genetic testing and variant interpretation in achieving an accurate diagnosis and providing genetic counselling for affected families with spastic paraplegia.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jdn.70113","type":"journal-article","created":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T06:53:52Z","timestamp":1773212032000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Genotypic and Phenotypic Spectrum of\n                    <i>AP5Z1<\/i>\n                    \u2010Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review"],"prefix":"10.1002","volume":"86","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6579-6132","authenticated-orcid":false,"given":"Zeynep","family":"Esener","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Balikesir University  Balikesir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-5310-1553","authenticated-orcid":false,"given":"Edanur","family":"Bulut","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Balikesir University  Balikesir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-8342-9289","authenticated-orcid":false,"given":"G\u00fclnur\u00a0Ert\u00fcrk","family":"Kale","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine Balikesir University  Balikesir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5303-3621","authenticated-orcid":false,"given":"Serpil","family":"Sar\u0131","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine Balikesir University  Balikesir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9944-9902","authenticated-orcid":false,"given":"Durg\u00fcl","family":"A\u00e7an","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medicine Balikesir University  Balikesir 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