More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Also known as: Ovarioleukodystrophy (in females only)
AARS2-related leukodystrophy is a rare genetic disease caused by mutations in the AARS2 gene that affects mitochondrial function. It leads to the progressive degeneration of the brain’s white matter, causing neurological symptoms such as developmental regression, movement difficulties, seizures, and intellectual disability. Treatment currently focuses on managing symptoms and providing supportive care to enhance the 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 AARS2 (alanyl-transfer [t]RNA synthetase 2) gene cause AARS2-related leukodystrophy. This gene codes for a protein involved in the health of mitochondria.
In adults, there are many similarities to the symptoms and signs of Hereditary Diffuse Leukoencephalopathy with axonal Spheroids (HDLS), although AARS2-related leukodystrophy is autosomal recessive, while HDLS is autosomal dominant. Unlike HDLS, AARS-2 related leukodystrophy can also affect children.
Ovarian failure in females can be an indicator that the condition is related to AARS2 as opposed to CSF1R (as in HDLS), but there is no such indicator in males.
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.
AARS2-related leukodystrophy causes dementia, upper motor neuron signs and ataxia. Ovarian failure is common in females with these mutations.
Personality changes are a common and early symptom of AARS2-related leukodystrophy, including depression, anxiety and loss of social inhibitions. Memory loss and the loss of ability to plan and implement actions will follow. Mild seizures may occur early in the disease progression.
Walking difficulties become apparent as the condition progresses, with movement issues developing to include bradykinesia, tremors and rigidity. Eventually the affected individual becomes unable to walk, talk or care for themselves.
Learn more about specific symptoms of this leukodystrophy in these pages.
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 are 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.
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