In Vivo Molecular Signatures of Cerebellar Pathology in Spinocerebellar Ataxia Type 3.

ABSTRACT:

Background

No treatment exists for the most common dominantly inherited ataxia Machado-Joseph disease, or spinocerebellar ataxia type 3 (SCA3). Successful evaluation of candidate therapeutics will be facilitated by validated noninvasive biomarkers of disease pathology recapitulated by animal models.

Objective

We sought to identify shared in vivo neurochemical signatures in two mouse models of SCA3 that reflect the human disease pathology.

Methods

Cerebellar neurochemical concentrations in homozygous YACMJD84.2 (Q84/Q84) and hemizygous CMVMJD135 (Q135) mice were measured by in vivo magnetic resonance spectroscopy at 9.4 tesla. To validate the neurochemical biomarkers, levels of neurofilament medium (NFL; indicator of neuroaxonal integrity) and myelin basic protein (MBP

SUBMITTER: Costa MDC 

PROVIDER: S-EPMC7572607 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature