MJD/SCA3 is a genetic dominant disease caused by an expanded CAG triplet repeat in the ATXN3 gene encoding an abnormal polyglutamine (polyQ) stretch in the Ataxin-3 (ATXN3) protein. Intracellular accumulation of expanded polyQ ATXN3 protein and selective cell death majorly in the brain stem, cerebellum, basal ganglia, thalamus and spinal cord are pathological hallmarks observed in brains of MJD/SCA3 patients .

Brain dysfunction is reflected heterogeneously in MJD/SCA3 patients, but some core symptoms include progressive ataxia, and pyramidal and extrapyramidal signs.

MJD/SCA3 is fatal and no disease-modifying therapy is currently available for this disease.

We are committed to understanding the molecular mechanisms of MJD/SCA3 and to developing effective disease-modifying therapies for this fatal disorder.


Read more about MJD/SCA3 in these reviews:


Recent therapeutic prospects for Machado-Joseph disease.

Costa MC

Current Opin Neurol. 2020 Aug;33(4):519-526.


Machado-Joseph Disease: A Stress Combating Deubiquitylating Enzyme Changing Sides.

Dantuma NP, Herzog LR

Adv Exp Med Biol. 2020;1233:237-260.


Pathogenesis of SCA3 and implications for other polyglutamine diseases.

McLoughlin HS, Moore LR, Paulson HL.

Neurobiol Dis. 2020 Feb;134:104635.


From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation.

Da Silva JD, Teixeira-Castro A, Maciel P

Neurotherapeutics. 2019 Oct;16(4):1009-1031. 


Machado-Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy.

Matos CA, de Almeida LP, Nóbrega C.

J Neurochem. 2019 Jan;148(1):8-28. 


Spinocerebellar ataxia.

Klockgether T, Mariotti C, Paulson HL.

Nat Rev Dis Primers. 2019 Apr 11;5(1):24. 


Planning Future Clinical Trials for Machado-Joseph Disease.

Saute JAM, Jardim LB.

Adv Exp Med Biol. 2018;1049:321-348. 


Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events.

Martins S, Sequeiros J.

Adv Exp Med Biol. 2018;1049:243-254. 


Pharmacological Therapies for Machado-Joseph Disease.

Duarte-Silva S, Maciel P.

Adv Exp Med Biol. 2018;1049:369-394. 



Toward understanding Machado-Joseph disease.

Costa MC, Paulson HL.

Prog Neurobiol. 2012 May;97(2):239-57.


Brain pathology of spinocerebellar ataxias.

Seidel K, Siswanto S, Brunt EPR, den Dunnen W, Korf H-W, Rub U

Acta Neuropathol. 2012 Jul;124(1):1-21.


%d bloggers like this: