A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype

ConclusionDe novo occurrence of the loss-of-functionSTUB1 variant in our case with multisystemic ataxia provides a qualitatively additional line of evidence for STUB1-disease as an autosomal-dominant disorder, in which the same neurological systems are affected as in its autosomal-recessive counterpart. Moreover, this finding adds support for loss-of-function as a mechanism underlying autosomal-dominant STUB1-disease, thus mirroring its autosomal-recessive counterpart also in terms of the underlying mutational mechanism.

Source: Journal of Neurology - April 3, 2021 Category: Neurology Source Type: research