{"id":232780,"date":"2026-03-07T22:20:16","date_gmt":"2026-03-08T04:20:16","guid":{"rendered":"https:\/\/lifeboat.com\/blog\/2026\/03\/autosomal-dominant-fth1-variant-causing-pontocerebellar-hypoplasia-and-late-onset-neuroferritinopathya-case-report"},"modified":"2026-03-07T22:20:16","modified_gmt":"2026-03-08T04:20:16","slug":"autosomal-dominant-fth1-variant-causing-pontocerebellar-hypoplasia-and-late-onset-neuroferritinopathya-case-report","status":"publish","type":"post","link":"https:\/\/lifeboat.com\/blog\/2026\/03\/autosomal-dominant-fth1-variant-causing-pontocerebellar-hypoplasia-and-late-onset-neuroferritinopathya-case-report","title":{"rendered":"Autosomal Dominant FTH1 Variant Causing Pontocerebellar Hypoplasia and Late-Onset NeuroferritinopathyA Case Report"},"content":{"rendered":"<p><a class=\"aligncenter blog-photo\" href=\"https:\/\/lifeboat.com\/blog.images\/autosomal-dominant-fth1-variant-causing-pontocerebellar-hypoplasia-and-late-onset-neuroferritinopathya-case-report2.jpg\"><\/a><\/p>\n<p>ObjectivesWe report on a patient with a distinct clinical and neuroradiologic phenotype and a de novo variant in the FTH1 gene. MethodsThe patient was a 25-year-old woman with developmental delay and pontocerebellar hypoplasia, who after years of stable condition visited our hospital at age 20 years because of clinical deterioration. With consent from the patients\u2019 family, we obtained clinical, imaging, and genetic data from the patient\u2019s medical record.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>ObjectivesWe report on a patient with a distinct clinical and neuroradiologic phenotype and a de novo variant in the FTH1 gene. MethodsThe patient was a 25-year-old woman with developmental delay and pontocerebellar hypoplasia, who after years of stable condition visited our hospital at age 20 years because of clinical deterioration. With consent from the patients\u2019 [\u2026]<\/p>\n","protected":false},"author":662,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11,412],"tags":[],"class_list":["post-232780","post","type-post","status-publish","format-standard","hentry","category-biotech-medical","category-genetics"],"_links":{"self":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/232780","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/users\/662"}],"replies":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/comments?post=232780"}],"version-history":[{"count":0,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/232780\/revisions"}],"wp:attachment":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/media?parent=232780"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/categories?post=232780"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/tags?post=232780"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}