Autosomal Dominant <i>FTH1</i> Variant Causing Pontocerebellar Hypoplasia and Late-Onset Neuroferritinopathy
Similar de novo <i>FTH1</i> 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.
Authors
- Sjoert Pegge (ORCID: https://orcid.org/0000-0001-9314-6137)
- de Vries Bj
- M. Willemsen
- Elene Vroegindeweij
- Jikke-Mien F. Niermeijer
- Erik-Jan Kamsteeg
- Jasmijn Annemiek Hebbink
Institutions
- Radboud University Nijmegen (NL)
- Radboud University Medical Center (NL)
- Radboud Institute for Molecular Life Sciences (NL)
- Amalia Kinderziekenhuis (NL)
- Elisabeth-TweeSteden Ziekenhuis (NL)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2026-01-14
- DOI
- https://doi.org/10.1212/nxg.0000000000200342
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00