Circadian rhythms are disrupted in patients and preclinical models of Machado-Joseph disease.

ABSTRACT: Machado-Joseph disease (MJD) is caused by an abnormal CAG repeat expansion in the ATXN3 gene, leading to the expression of a mutant ataxin-3 (mutATXN3) protein. Patients with MJD exhibit a wide range of clinical symptoms, including motor incoordination. Emerging evidence highlights circadian rhythm disruptions as early indicators and potential risk factors for the progression of neurodegenerative conditions. Circadian rhythms are regulated by internal clocks, with the suprachiasmatic nucleus (SCN) acting as the master pacemaker to synchronize timing across the body's behavioural and physiological functions. While sleep disturbances have been observed in MJD, the role of clock regulation in its pathophysiology remains largely unexplored in spinocerebellar ataxias. This study aimed to invest

SUBMITTER: Ribeiro RFN 

PROVIDER: S-EPMC12686817 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature