Machado-Joseph Disease Press Releases

For the first time, researchers have identified how the gene for a hereditary neurodegenerative disease called spinocerebellar ataxia type 1 (SCA1) disables an important group of neurons in the brain. The findings improve understanding of how SCA1 and related diseases develop and may lead to new ways of treating them.

A new strategy to shut down mutant gene expression in the brain may someday be useful to treat a wide range of hereditary neurodegenerative diseases, such as Huntington’s, Alzheimer’s, and Parkinson’s diseases.
Fact Sheet

Scientists have identified the gene altered in one of the most common hereditary ataxias, spinocerebellar ataxia 2 (SCA2). The discovery allows improved genetic testing and provides new clues about how genetic mutations cause several neurological disorders, including Huntington's disease. The findings are reported by three different groups in the November issue of Nature Genetics.

Scientists have identified a new type of trinucleotide repeat mutation that leads to Friedreich's ataxia (FA), a rare childhood neurodegenerative disease. The discovery allows accurate screening for carriers of the disease and may lead to the first effective treatments.