{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:23:00Z","timestamp":1759796580599,"version":"build-2065373602"},"reference-count":38,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T00:00:00Z","timestamp":1759536000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.mdpi.com"],"crossmark-restriction":true},"short-container-title":["Children"],"abstract":"<jats:p>Objective: The classification of hereditary spastic paraplegia (HSP) is based on genetics, and the number of genetic loci continues to increase with new genetic descriptions. Additionally, the number of new variants in known mutations continues to increase. In this paper, we aim to report our experience with genetically confirmed HSPs. Methods: We retrospectively evaluated 10 consecutive children with genetically confirmed HSPs. Results: In this study, we identified six novel mutations, including spastic paraplegia 11 (SPG11), glucosylceramidase beta 2 (GBA2), chromosome 19 open reading frame 12 (C19orf12), 1 in each of the Cytochrome P450 family 7 subfamily B member 1 (CYP7B1) genes, and two different mutations in the intropomyosin-receptor kinase fused gene (TFG) gene. We also identified different clinical phenotypes associated with known mutations. Conclusions: Heterozygous mutations with GBA2 and SPG11 mutation-related HSP are reported for the first time, expanding the known inheritance patterns. We report a novel homozygous chromosome 19 open reading frame 12 (C19orf12) mutation resulting in iron accumulation in the brain, broadening the genetic variants and clinical findings. We determine the first Turkish patients with carnitine palmitoyltransferase IC (CPT1C) and TFG gene mutation-related pure HSP. A pure form of HSP with two novel TFG gene mutations is also identified for the first time. We report the first Turkish patient with kinase D-interacting substrate of 220 kDa (KIDINS220) gene, broadening the clinical spectrum of KIDINS220 variant-related disorders to encompass certain HSPs. Moreover, a novel variant in the oxysterol7-hydroxylase (CYP7B1) gene is reported, expanding the genetic variants and clinical findings relating to SPG5.<\/jats:p>","DOI":"10.3390\/children12101332","type":"journal-article","created":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T08:10:51Z","timestamp":1759738251000},"page":"1332","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience"],"prefix":"10.3390","volume":"12","author":[{"given":"Seyda","family":"Besen","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurolog, Adana Dr. Turgut Noyan Teaching and Medical Research Center, Baskent University Faculty of Medicine, 01120 Adana, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasemin","family":"\u00d6zkale","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Adana Dr. Turgut Noyan Teaching and Medical Research Center, Baskent University Faculty of Medicine, Baraj Yolu 1 Durak, 01120 Seyhan, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murat","family":"\u00d6zkale","sequence":"additional","affiliation":[{"name":"Department of Pediatric Intensive Care, Adana Dr. Turgut Noyan Teaching and Medical Research Center, Baskent University Faculty of Medicine, 01120 Adana, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sevcan Tu\u011f","family":"Bozdo\u011fan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u00c7ukurova University, 01330 Adana, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zlem","family":"Alkan","sequence":"additional","affiliation":[{"name":"Department of Radiology, Adana Dr. Turgut Noyan Teaching and Medical Research Center, Baskent University Faculty of Medicine, 01120 Adana, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serdar","family":"Ceylaner","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Lokman Hekim University, 06510 Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0130lknur","family":"Erol","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurolog, Adana Dr. Turgut Noyan Teaching and Medical Research Center, Baskent University Faculty of Medicine, 01120 Adana, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1016\/S1474-4422(08)70258-8","article-title":"Hereditary spastic paraplegia: Clinical features and pathogenetic mechanisms","volume":"7","author":"Salinas","year":"2008","journal-title":"Lancet Neurol."},{"key":"ref_2","first-page":"27","article-title":"Recent advances in understanding hereditary spastic paraplegias and emerging therapies","volume":"10","author":"Darios","year":"2021","journal-title":"Fac. 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