Since last October, we have been collaborating with the Tarlov Cyst Association in the first genetic study carried out in Spain to identify genetic variants associated with this pathology.
Tarlov cysts are arachnoid dilatations of the spinal cord occupied by cerebrospinal fluid that can occur at any level of the spinal column, although they most frequently appear in the lower part, called the sacral region. Their presence is common in the general population, although it is estimated that only 5% present symptoms related to them.
To carry out this study we performed whole exome sequencing and screened all genes for DNA variants that have the potential to predispose or cause the development of Tarlov cysts. Taking into account the clinical presentation of each patient, we focus on the genes with the highest association in each case, so that our goal is to create a list of candidate genes related to this disease.
To date, there are 46 patients included in the study and new patients are expected to join in the future. The preliminary results were presented by our colleague Leyre Larzabal last April at the State Reference Center for Rare Diseases in Burgos in an event organized by the association.
We would like to highlight the great willingness and kindness shown by Isabel Otxandorena and by all the members of the association from the very beginning, as well as to thank them for the trust they have placed in our work. We hope to be able to contribute to a better understanding of the genetic causes of this disease and that the results of the study may help new patients in the future.
If you are a patient, and you want to participate in the study, you can contact the association through their web page www.quistestarlov.org/contacto and they will give you all the information about it.
