Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation.
Merel O MolJeroen G J van RooijEsther BrusseAnnemieke J M H VerkerkShamiram MelhemWilfred F A den DunnenPatrizia RizzuChiara CupidiJohn C van SwietenLaura Donker KaatPublished in: Neurology. Genetics (2020)
This study confirms previous findings of heterozygous STUB1 mutations as the cause of SCA48 and highlights its prominent cognitive involvement, besides cerebellar ataxia and movement disorders as cardinal features. The presence of intranuclear inclusions is a pathologic hallmark of the disease. Future studies will provide more insight into its pathologic heterogeneity.