First Genetic Study in Spain Aims to Uncover the Genetic Causes of Tarlov Cyst Disease

May 14
3 min read

Updated: May 23

Spain Launches First Genetic Study for Tarlov Cyst Disease

For the first time in Spain, researchers are conducting a genetic study focused on Tarlov Cyst Disease, a debilitating and often misunderstood neurological condition. In partnership with the Tarlov Cysts Association of Spain, this groundbreaking initiative seeks to uncover the genetic variants that may cause or predispose individuals to develop symptomatic Tarlov cysts.

Since October 2023, this collaborative effort has been actively enrolling patients and performing whole-exome sequencing (WES)—a powerful genomic tool used to analyze all protein-coding regions of the genome. The objective: to create a list of candidate genes potentially linked to Tarlov Cyst Disease.

What Is Tarlov Cyst Disease?

Tarlov cysts, also known as perineural or sacral nerve root cysts, are arachnoid dilatations of the spinal cord filled with cerebrospinal fluid. While these cysts can occur along any level of the spine, they are most commonly found in the sacral region (the lower part of the spine).

Although Tarlov cysts are present in a significant portion of the general population, only an estimated 5% of individuals experience symptoms related to them. These symptoms can include:

Chronic sacral or lower back pain
Neurological deficits
Numbness or weakness in the lower limbs
Bowel, bladder, or sexual dysfunction

The cause of Tarlov Cysts remains largely unknown, which is why this type of research is so vital to the patient community.

🧬 How the Study Works

Researchers are using whole-exome sequencing to analyze DNA samples from enrolled patients. Each case is reviewed in conjunction with the patient’s clinical history to determine gene variants most strongly associated with their presentation. By narrowing down patterns in the data, the study aims to:

Identify potential genetic causes
Build a list of genes that may predispose individuals to develop Tarlov cysts
Contribute to better diagnostic and treatment pathways in the future

As of July 2024, the study has already enrolled 46 patients, and more are expected to join.

Preliminary findings were presented by lead researcher Leyre Larzabal at the State Reference Center for Rare Diseases in Burgos in April 2024.

Recognition and Patient Involvement

This research would not be possible without the tireless efforts of Isabel Otxandorena and the entire team at the Tarlov Cysts Association of Spain, who have been instrumental in coordinating the study and supporting patients. Their dedication to advancing rare disease knowledge is helping to lay the foundation for meaningful change.

📣 How to Participate in the Tarlov Cyst Genetic Study in Spain

If you are a patient living with symptomatic Tarlov Cyst Disease and reside in Spain, you may be eligible to participate in this study.

To learn more or register your interest, click here

The association will provide you with all necessary information and support.

🌍 A Global Effort Toward Understanding Tarlov Cyst Disease

At the Tarlov Cyst Society, we are proud to witness and support this important step forward. This study represents not only a scientific milestone in Spain, but also a vital contribution to the global understanding of Tarlov Cyst Disease.

We are currently building the world’s first international Tarlov Cyst Disease Patient Registry, and we invite researchers, patient organizations, and clinicians worldwide to collaborate as we continue working toward better outcomes, earlier diagnoses, and more effective treatments for patients everywhere.

📧 Want to connect or share your own story?

Published: May 14th, 2025

Author: Tarlov Cyst Society

Keywords: Tarlov Cyst Disease, Tarlov Cysts, genetic study, Spain, rare disease research, whole exome sequencing, arachnoid cysts, sacral cysts, Tarlov cyst symptoms, genetic variants