Gene Related to Ataxia Found
The Dalhousie team of the Atlantic Medical Genetics and Genomics Initiative (AMGGI) project has discovered a new gene associated with ataxia, as seen in the publication, The Journal of Neurological Sciences.

Inherited Ataxia represents a large family of genetic disorders involving loss of normal movement. Ultimately, despite the best efforts of clinical investigators to classify and subclassify these conditions, molecular characterization increasingly provides a critical diagnostic criterion.

Doctors at the IWK hospital have seen a number of patients and families with ataxias. Recently, two such families were analyzed as part of AMGGI. After mapping the entire genome of affected patients and family members, the AMGGI team identified a single chromosomal region where a mutation causing the familial ataxia was likely to lie. By direct DNA sequencing, the team discovered two different pathogenic mutations in the gene called sacsin. 

These mutations have been previously reported, particularly in Quebec province where a founder effect has led to a large number of patients suffering from ataxia. The mutations discovered in the Maritime families are different than the founder Quebec mutation, and have a different clinical presentation. Thus the AMGGI team has successfully explained the genetic basis for the ataxia in these families, and has expanded knowledge of the sacsin gene and its role in nerve cell function.