More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Also known as: Lamin related leukodystrophy; Autosomal dominant late-onset leukoencephalopathy
Adult Onset Autosomal Dominant Leukodystrophy (ADLD) is a rare genetic disorder affecting the white matter of the brain. It is caused by a duplication of the LMNB1 gene, leading to overproduction of Lamin B1 and a thicker coat around cells preventing duplication. This happens in myelin thus reducing the amount of myelin and resulting in demyelination. ADLD typically presents in adulthood with progressive neurological symptoms, including movement difficulties, muscle weakness, and cognitive decline. Treatment 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.
Those with ADLD have an extra copy of the LMNB1 gene. This gene produces Lamin B1, meaning those with ADLD produce more Lamin B1. This creates a coating around cells which is thicker than normal, preventing some of them from duplicating. This particularly happens with myelin (white matter) in the brain, reducing the amount of myelin in a process called demyelination. Leukodystrophies can be categorised in groups, including demyelinating leukodystrophies where demyelination shows in MRI scans and causes the symptoms described as it reaches the central nervous system and spinal cord.
Autosomal dominant: In autosomal dominant conditions, only one copy of the genetic mutation is needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. Someone with an autosomal dominant condition has one parent with a copy of the genetic mutation and the condition themselves. Therefore, someone with an autosomal dominant condition has a genetic mutation on one copy of the gene from their parent with the condition. Each child of a parent with the genetic mutation will have a 50% chance of having the condition and a 50% 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.
ADLD is a rare slowly progressive neurological disorder; it may be years from the first signs of ADLD before some of these other symptoms develop.
It may initially resemble multiple sclerosis, with early symptoms related to autonomic dysfunction (some may experience this later). The autonomic nervous system controls involuntary body functions which are those that happen without having to think about it. Autonomic dysfunction results in urinary urgency, urinary retention, constipation and postural hypotension. Some will notice decreased sweating and men may experience erectile dysfunction. Other symptoms include spasticity, weakness of lower and upper extremities and hyperreflexia, alongside related movement symptoms such as gait ataxia, nystagmus, dysmetria, action tremors and loss of fine motor control. ADLD may lead to mild cognitive impairment and some personality changes, as well as an eventual loss of ability to walk and a slightly shortened lifespan.
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.
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.