Aug-15 – Ataxia



New spinocerebellar ataxia drug, Cabaletta, granted orphan drug status by The European Commission

The new drug, which is being developed by the pharmaceutical company BioBlast (which is based in Israel), prevents proteins from clumping together in a cell, thought to be one of the causes of some symptoms of SCAs. By granting it orphan status it means that there will be regulatory and financial incentives making it quicker for the drug to become available.

Posted: 28/08/15

Lay summaries from the international ataxia research conference are now available

To learn about the latest research presented at the international research conference this year, take a look at our lay summaries.

Posted: 26/08/15

New study reveals one likely cause of unexplained late-onset ataxia is a mutation in the gene SPG7, known to cause hereditary spastic paraplegia

Who conducted the study?

The study was conducted by researchers from Ataxia UK accredited Ataxia Centres in Newcastle and Sheffield, as well as the Ataxia Specific Clinic in Oxford.

What did they do?

They sequenced the genes of 70 people who had undiagnosed ataxia using exome sequencing, a technique which allows researchers to sequence and analyse a person’s exons, the part of the DNA which codes for proteins in the body.

What did they find out?

Late-onset ataxia is usually hard to diagnose and often stays classified as idiopathic (of unknown cause). This study unveiled a gene usually associated with spastic paraplegia as the likely cause of 18.6% of participant’s undiagnosed ataxia. It was also suggested that this gene, called SPG7, may even be relevant to people with sporadic ataxia, as over half of these participants had no family history of the disease.

Posted: 04/08/15


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