More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Also known as: CC2L, Leukoencephalopathy with mild cerebral ataxia and white matter edema
CLCN2-related leukoencephalopathy is a rare genetic disorder caused by mutations in the CLCN2 gene. This gene provides instructions to make a chloride channel which is important for the creation and transmission of electrical signals in cells. This mutation affects the brain’s white matter, nerve impulses are not able to transmit effectively and leads to neurological symptoms, such as movement difficulties with balance, muscle weakness, and intellectual disability. Treatment primarily focuses on managing symptoms and providing supportive care to improve 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 CLCN2 gene cause this condition. This gene provides instructions to make a chloride channel (CIC2) which is important in generation and transmission of electrical signals within cells. These channels also regulate water and ion levels in the cells. They are embedded in most cells and are particularly important in the brain.
When the CLCN2 gene is mutated, the channel function is impaired, or the channel cannot work at all. This leads to a build up of water in myelin (white matter) in the brain. This myelin is then unable to transmit nerve impulses effectively, resulting in the symptoms described.
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.
CLCN2-related leukoencephalopathy is very rare and can become apparent either in childhood or in adulthood, but generally does not progressively worsen. Those diagnosed as children may have learning difficulties, those with symptoms beginning in adulthood often have vision problems.
Common symptoms include difficulty with coordination and balance, as well as frequent headaches and sometimes mild spasticity. The following symptoms have also been observed, these may be as a result of the leukoencephalopathy but may also be unrelated to the condition: dizziness, tinnitus (ringing in the ears), hearing loss, psychiatric disorders, paroxysmal kinesigenic dyskinesia (episodic abnormal movements).
Males with this condition may be infertile.
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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