More symptom information
Learn more about specific symptoms of this leukodystrophy in the pages listed here.
Leukoencephalopathy with thalamus and brainstem involvement and elevated lactate (LTBL) is a rare genetic disorder that affects the central nervous system caused by mutations in the EARS2 gene. It is characterised by abnormal white matter changes in the brain, particularly involving the thalamus and brainstem, and elevated levels of lactate in the affected tissues. LTBL leads to progressive neurological symptoms, including abnormal muscle tone, movement difficulties, cognitive decline, and vision problems. Treatment primarily focuses on managing symptoms and providing supportive care to improve the affected individual’s quality of life.
A new diagnosis can be overwhelming as it brings unique challenges and adjustments, but it is important to remember that you are not alone.
Mutations in the EARS2 gene cause LTBL. The EARS2 gene creates an enzyme which contributes to protein production in the mitochondria. When the EARS2 gene is mutated, the amount of this enzyme is reduced, disrupting protein production. It is believed that this has an impact on production of energy within the mitochondria, but it is unclear how this specifically affects the brain.
Autosomal recessive: In autosomal recessive conditions, two copies of the genetic mutation are needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. The parents of someone with an autosomal recessive condition both carry one copy of the gene with a genetic mutation. Therefore, someone with an autosomal recessive condition has two copies of the genetic mutation, one copy from each parent. Each child of parents that both carry the genetic mutation will have a 25% chance of having the condition, a 50% chance of carrying the genetic mutation (like the parent), and a 25% chance of not having the condition.
Genetic counselling is essential for affected families due to the inheritance pattern of the condition. This is available at hospitals and Regional Genetic Centres. Please contact your doctor if you have any questions.
Learn more about genetic testing and counselling here.
Those severely affected by LTBL will develop symptoms soon after birth, including hypotonia, dystonia, spasticity and seizures. Development of mental and movement abilities is often delayed. High levels of lactate can cause an abnormal heartbeat and severe breathing problems. Some also experience liver failure. If symptoms do not improve they may become life-threatening.
Mildly affected children develop symptoms after the age of 6 months. Psychomotor regression, spasticity and extreme irritability are common, and some also experience seizures. After the age of 2, symptoms seem to to partially improve, some mental and movement abilities are regained, seizures reduce, MRI results become more normal, and lactate levels lower.
Learn more about specific symptoms of this leukodystrophy in the pages listed here.
Although there is currently no specific treatment for this leukodystrophy, there is condition management information that may be useful for you in managing your or your loved one’s leukodystrophy.
There may be a current clinical trial, natural history study or patient registry for your condition. Check our current research page and ask your specialist doctor for more information.
We understand that research is a significant priority and source of hope for the leukodystrophy community. There is more research in leukodystrophy now than ever before. Alex TLC actively promotes and supports research in a number of ways.
Every month we update our database of research summaries with the most recent research. This includes summaries of leukodystrophy articles, clinical trials and pharmaceutical press releases. Our summaries allow our community to read about relevant recent research developments in a format that is easily understood.
Learn about the ways in which we can help in the how we support you section. When you or a family member been diagnosed with a leukodystrophy it may be difficult to know where to go for more advice – this information could help.
Our services and equipment section is here to help leukodystrophy patients and their families manage their condition. All information is based on our knowledge of UK services, however, our team are happy to receive support requests from other countries – email us.
You may be introduced to many different medical professionals which you may find confusing. View our guide to the health and care professionals you may encounter, with short descriptions about what they do.
We take great care in only selecting credible, useful links and resources, however we cannot be held responsible for the content of external websites or other sources.