From Medical Xpress:

Machado-Joseph disease (MJD) is a hereditary neurodegenerative disorder that destroys the brain areas involved in muscle control. Although the disease is clearly caused by a mutation in the ATXN3 gene resulting in an abnormal ataxin-3 protein that forms toxic aggregates in the brain, the mechanism of MJD development is unclear. And despite decades of research no cure or treatment has been found. But now, a study in the journal Brain by researchers from University of Coimbra in Portugal reports a new approach to solve this old problem, finding a treatment that can reverse the disease’s neural damage and its symptoms in several animal models of MJD. The treatment restores normal levels of a molecule involved in protein regulation that is abnormally low in animals and human patients with MJD. Although much work needs to be done to see if this type of therapy could be applied to MJD patients, these are promising results, and the approach could be used in similar neurodegenerative diseases.

MJD (also known as spinocerebellar ataxia type 3 or SCA3) is rare, but can nevertheless show a remarkably high incidence (up to 1:150) in isolated populations. It is also very destructive. It is genetically transmitted, and every child of a sufferer has a 50 percent chance of developing the disease, with successive generations developing MJD earlier than the previous ones. Equally destructive is its progression, leaving the brain faculties intact while unremittingly destroying the body. Symptoms start with lack of coordination, speech and swallowing difficulties, and…

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