{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:49:15Z","timestamp":1747198155234,"version":"3.40.5"},"reference-count":17,"publisher":"Walter de Gruyter GmbH","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0481_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>The fatty acid 2-hydroxylase gene (FA2H) compound heterozygous or homozygous variants that cause spastic paraplegia type 35 (SPG35) (OMIM # 612319) are autosomal recessive HSPs. <jats:italic>FA2H<\/jats:italic> gene variants in humans have been shown to be associated with not only SPG35 but also leukodystrophy and neurodegeneration with brain iron accumulation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0481_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A patient with a spastic gait since age seven was admitted to the paediatric metabolism department. She was born to consanguineous, healthy Turkish parents and had no family history of neurological disease. She had normal developmental milestones and was able to walk at 11\u00a0months. At age seven, she developed a progressive gait disorder with increased muscle tone in her lower limbs, bilateral ankle clonus and dysdiadochokinesis. She had frequent falls and deteriorating school performance. Despite physiotherapy, her spastic paraplegia was progressive. Whole exome sequencing (WES) identified a homozygous NM_024306.5:c.460C&gt;T missense variant in the <jats:italic>FA2H<\/jats:italic> gene, of which her parents were heterozygous carriers. A brain MRI showed a slight reduction in the cerebellar volume with no iron deposits.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0481_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Pathogenic variants of the <jats:italic>FA2H<\/jats:italic> gene have been linked to neurodegeneration with iron accumulation in the brain, leukodystrophy and SPG35. When patients developed progressive gait deterioration since early childhood even if not exhibited hypointensity in the basal ganglia detected by neuroimaging, <jats:italic>FA2H<\/jats:italic>-<jats:italic>related<\/jats:italic> neurodegeneration with brain iron accumulation should be ruled out. FA2H\/SPG35 disease is characterised by notable clinical and imaging variability, as well as phenotypic diversity.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0481","type":"journal-article","created":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T11:21:11Z","timestamp":1707909671000},"page":"271-275","source":"Crossref","is-referenced-by-count":0,"title":["Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration"],"prefix":"10.1515","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6139-6027","authenticated-orcid":false,"given":"Ay\u015fenur","family":"Engin Erdal","sequence":"first","affiliation":[{"name":"Department of Pediatric Metabolic Diseases, Children\u2019s Hospital , Ankara Bilkent City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burak","family":"Y\u00fcrek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Diseases, Children\u2019s Hospital , Ankara Bilkent City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6822-1713","authenticated-orcid":false,"given":"Oya","family":"K\u0131reker K\u00f6yl\u00fc","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Diseases, Children\u2019s Hospital , Ankara Bilkent City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4938-3420","authenticated-orcid":false,"given":"Ahmet Cevdet","family":"Ceylan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Ankara Bilkent City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7277-3550","authenticated-orcid":false,"given":"Ay\u015feg\u00fcl Ne\u015fe","family":"\u00c7\u0131tak Kurt","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Children\u2019s Hospital, Ankara Bilkent City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c7i\u011fdem Seher","family":"Kasapkara","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Diseases, Children\u2019s Hospital , Ankara Bilkent City Hospital , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2024,2,6]]},"reference":[{"key":"2024032911180832780_j_jpem-2023-0481_ref_001","doi-asserted-by":"crossref","unstructured":"Dick, KJ, Al-Mjeni, R, Baskir, W, Koul, R, Simpson, MA, Patton, MA, et al.. 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