Machado Joseph Disease News and Research

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UB researchers uncover new functions in ataxin 3 gene that causes Machado-Joseph disease

Ataxia is a minority disease with genetic origins, known for its neuromuscular alterations due to the selective loss of neurons in the cerebellum, the organ of our nervous systems which controls movement and balance.

25 Nov 2020

Researchers discover mechanism by which abnormal proteins unleash toxicity in neurodegenerative diseases

Thanks to modern medicine, humans tend to live much longer than before. Unfortunately, this also opens a wider window to develop chronic diseases with late onset, such as neurodegenerative diseases.

23 Nov 2020

Mayo clinic researchers develop a potential test for Machado-Joseph disease

Mayo Clinic researchers, along with national and global collaborators, have developed a potential test for Machado-Joseph disease, or spinocerebellar ataxia type 3 (SCA3) ? a disease that has no cure.

22 Oct 2020

NIH awards $26.56 million grant to create new Framingham Heart Study Brain Aging Program

Since 1976, the Framingham Heart Study (FHS)--the longest running multi-generational epidemiological study in the world--has followed participants for incident dementia.

14 Sep 2020

Researchers employ nucleotide-based gene silencing to mitigate common ataxia

In what researchers are calling a game changer for future ataxia treatments, a new study showed the ability to turn down the disease progression of the most common dominantly inherited ataxia.

20 Jun 2018

Scientists decode how Machado-Joseph disease arises

Neurodegenerative diseases represent one of the greatest challenges of our aging society. However, investigation into these diseases is made particularly difficult due to the limited availability of human brain tissue. Scientists from the Life & Brain Research Center and Neurology Clinic of Bonn University have now taken a roundabout path: They reprogrammed skin cells from patients with a hereditary movement disorder into so-called induced pluripotent stem cells (iPS cells) and obtained functional nerve cells from them.

24 Nov 2011

Scientists identify biochemical abnormality behind Machado-Joseph disease

Scientists in Portugal have identified a biochemical abnormality behind the potentially fatal neurodegenerative Machado-Joseph disease and using several models of the disease were able to reverse the problem in what can be a crucial step towards a cure for humans .

2 May 2011

World Federation of Neurology awards UT Southwestern director the first Medal for Scientific Achievement

Dr. Roger Rosenberg, director of the Alzheimer's Disease Center at UT Southwestern Medical Center, has been awarded the first Medal for Scientific Achievement by the World Federation of Neurology.

29 Sep 2009

Small molecules might block mutant protein production in Huntington's disease

Molecules that selectively interfere with protein production can stop human cells from making the abnormal molecules that cause Huntington's disease, researchers at UT Southwestern Medical Center have found.

5 May 2009

Small molecules might block mutant protein production in Huntington's disease

3 May 2009

Defective calcium metabolism in nerve cells contributes to neurological disorder

Defective calcium metabolism in nerve cells may play a major role in a fatal genetic neurological disorder that resembles Huntington's disease, researchers at UT Southwestern Medical Center have found in a mouse study.

26 Nov 2008

Potential therapeutic role for the ataxin-3 protein for Machado-Joseph disease

The repetition of three little "letters" within the gene that codes for the ataxin-3 protein is both the cause of and perhaps a solution to Machado-Joseph disease and an entire family of similar genetic disorders, according to researchers at the University of Pennsylvania.

3 Apr 2005