autosomal dominant cerebellar ataxia spinocerebellar ataxia 47 https://github.com/monarch-initiative/mondo/issues/9137 https://www.malacards.org/card/cerebellar_ataxia_type_47 https://www.malacards.org/card/spinocerebellar_ataxia_47 GARD:0022351 DOID:0111743 MONDO:0033482 PUM1-related cerebellar ataxia OMIM:617931 SCA47 Orphanet:642747 A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis. MEDGEN:1636349 UMLS:C4693672 This term has been deprecated in OMIM: The variant formerly titled SPINOCEREBELLAR ATAXIA 47, has been reclassified as a variant of unknown significance based on the findings of Cuillerier et al. (2025) (PMID:40191983). Upon reexamination of the family (family X) reported by Gennarino et al. (2018) (PMID:29474920), Cuillerier et al. (2025) found that the disorder resulted from a pathogenic GAA(n) repeat expansion in the FGF14 gene, consistent with a diagnosis of spinocerebellar ataxia-27B, late-onset (MONDO:0859340). spinocerebellar ataxia 47