More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Cerebral Autosomal Recessive Arteriopathy with Subcortical infarcts and Leukoencephalopathy (CARASIL) is an extremely rare genetic disorder that affects the brain’s blood vessels. It is caused by mutations in the HTRA1 gene, resulting in reduced blood flow and progressive white matter damage (leukoencephalopathy). CARASIL typically presents with symptoms like cognitive decline, mood changes, gait disturbance, speech and/or swallowing difficulties, and stroke. Treatment mainly focuses on managing symptoms, stroke prevention measures, 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 HTRA1 gene, which creates the HTRA1 protein, is the cause of CARASIL. Those with these mutations have an absence or reduced amount of HTRA1, which is therefore less able to carry out its purpose of repressing signalling of transforming growth factor (TGF)-beta family members.
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.
Though classical CARASIL is an autosomal recessive condition, there are now several reports of people with only one pathogenic variant (or mutation) being affected with similar neurological symptoms. In such cases onset tends to be later in life and additional features such as alopecia and spondylosis are not present.
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.
Damage to cerebral small blood vessels in CARASIL causes cerebral symptoms, including strokes. Other common symptoms include: increasing muscle tone, slurred speech, stiffness and spasticity in the legs, difficulties in swallowing and in bladder control, and gait disturbances. Eventually, CARASIL leads to mental decline and dementia. Those with CARASIL can live for 20-30 years after diagnosis, but are often unable to leave their beds after 10 years.
Alopecia and spondylosis are also important symptoms to look out for as they often begin between the ages of 10 and 30, before neurological symptoms.
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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