Autosomal Dominant FTH1 Variant Causing Pontocerebellar Hypoplasia and Late-Onset Neuroferritinopathy
Abstract
Objectives: gene. Methods: The 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' family, we obtained clinical, imaging, and genetic data from the patient's medical record. Results: gene, c.510_511delTC. Discussion: gene variants were reported in a case series of 5 patients with a similar, distinctive phenotype. Because this is a recently discovered cause of prenatal-onset cerebellar atrophy with later-onset neuroferritinopathy, our case adds to the literature to learn more about this distinct disease.
Fields of Study & Subjects
Neurological diseases and metabolism
Fetal and Pediatric Neurological Disorders
Genetic Neurodegenerative Diseases
Publication details
- Journal / source
- Neurology Genetics
- Publisher
- Ovid Technologies (Wolters Kluwer Health)
- Volume
- 12
- Issue
- 1
- Pages
- e200342–e200342
- Publication date
- 14 January 2026
- Language
- EN