(Both the infantile and adult‐onset phenotypes are now considered to be forms of spinocerebellar ataxia type 47 [SCA47, MIM: 617931], but in this work we will refer to the adult disease as PUM1‐related cerebellar ataxia [PRCA] and the neurodevelopmental syndrome as PUM1‐associated developmental delay and seizures [PADDAS]; Gennarino et al, 2018). This evidence concerns the gene PUM1 and aceruloplasminemia.