A new study reveals that 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