Cerebellar morphometric and spectroscopic biomarkers for Machado-Joseph Disease.

ABSTRACT: Machado-Joseph disease (MJD) or Spinocerebellar ataxia type 3 (SCA3) is the most common form of dominant SCA worldwide. Magnetic Resonance Imaging (MRI) and Proton Magnetic Resonance Spectroscopy (¹H-MRS) provide promising non-invasive diagnostic and follow-up tools, also serving to evaluate therapies efficacy. However, pre-clinical studies showing relationship between MRI-MRS based biomarkers and functional performance are missing, which hampers an efficient clinical translation of therapeutics. This study assessed motor behaviour, neurochemical profiles, and morphometry of the cerebellum of MJD transgenic mice and patients aiming at establishing magnetic-resonance-based biomarkers. ¹H-MRS and structural MRI measurements of MJD transgenic mice were performed with a 9

SUBMITTER: Miranda CO 

PROVIDER: S-EPMC8933766 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature