We have recently identified a gene (PNKP) that, when mutated, causes recessive ataxia with oculomotor apraxia type 4.
These results have just been published online by The American Journal of Human Genetics (open access).
We identified various PNKP mutations in 8 families from Portugal with a very homogeneous phenotype of ataxia. These families were recruited as part of a systematic, nationwide survey focused on hereditary cerebellar ataxia and hereditary spastic paraplegia, which occurred in Portugal between 1994 and 2004 (described here).
We expect these findings to not only have a direct impact in the genetic counseling and clinical management of the patients and families with the mutated version of this gene, but also to contribute to the understanding of the molecular mechanisms underlying this disease.