CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3.
Vanessa B LeottiJeroen J de VriesCamila M OliveiraEduardo P de MattosGerard J Te MeermanEwout R BruntHarm H KampingaLaura Bannach JardimDineke S VerbeekPublished in: Annals of neurology (2020)
Our data imply that the length of the expanded CAG repeat in ATXN3 is a major determinant of clinical decline, which suggests that CAG-dependent molecular mechanisms similar to those responsible for disease onset also contribute to the rate of disease progression in SCA3/MJD. ANN NEUROL 2021;89:66-73.