A cluster of rare neurological disorders has been discovered in south Wales, affecting dozens of people born into families with a high risk of genetic mutations. The condition, called Dentatorubral-pallidoluysian atrophy (DRPLA), is an inherited disorder that affects the brain and causes progressive memory loss, personality change, muscle spasms, seizures, and psychiatric disturbances.
Researchers have identified a “cluster” of patients in their 20s and 30s who share this rare condition. Dr. Mark Wardle, who led the research study, believes that the cluster is due to a gene defect that affects the ATN1 gene. The mutation can be passed down from parents to children with a 50% chance.
Jessica, a 20-year-old girl from Pontypridd, Wales, was diagnosed with DRPLA at age 13. She now uses a wheelchair and is unable to walk or talk due to progressive symptoms. Her mother, Rachel Cowley, fears that Jessica will not survive in the next few years.
Ms. Cowley joined a Facebook group for people affected by DRPLA in south Wales, where she found support and advice from others who are going through similar challenges. The condition affects not only physical abilities but also mental health, leaving families to scramble for information about treatment options and potential cures.
Researchers are now working on a clinical trial in the US that aims to provide a potential treatment for DRPLA. While the results of the trial are promising, Dr. Silvia Prades, research manager at Ataxia UK and CureDRPLA, notes that there is still much uncertainty about the condition’s effects.
As awareness about DRPLA grows, researchers hope to identify patients earlier and provide them with access to treatment options. However, there are also concerns about testing people under 18 for genetic mutations, as Dr. Wardle highlights the importance of maturity and understanding in making informed decisions about their health.
Source: https://www.bbc.com/news/articles/cn0qqvyrdkwo