Developments in the Study of Ataxia: Future Opportunities and Challenges

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Ataxia is a group of neurological disorders characterized by a lack of coordination and balance.  Ataxia can present with mild to severe symptoms. Several different factors such as genetic mutations, autoimmune disorders, brain or spinal cord injuries, can bring on Ataxia. However, there are a few approaches that have the potential to lead to new treatments and therapies.  And recent research in the field of ataxia has shown promising results.

According to News Medical,

“Generally speaking, “ataxia” refers to clumsiness or a loss of coordination and balance that is not due to muscle weakness. It results from brain or nerve dysfunction and presents symptoms such as stumbling, slurred speech, lack of coordination, and deterioration of fine motor skills. 

Damage to different parts of the nervous system can cause ataxia, but in many cases, it is caused by damage to a part of the brain called the cerebellum, which serves as the balance and coordination processing center of the brain. The cerebellum takes sensory information about your body and the environment around you to help you make quick and precise coordinated movements. For example, your cerebellum helps you predict how far a cup is from your hand or how much force your hand needs to exert to grasp it. Damage to the cerebellum may greatly increase the risk of spilling when performing either of these tasks. Individuals with progressive types of Ataxia have increasing difficulties with walking, often leading to the eventual use of assistive equipment like walkers and wheelchairs. You would find way more walkers and wheelchairs at my family reunions than you’d expect to see for my relatives’ ages. The cerebellum also helps coordinate eye movements, speech, and swallowing, which can greatly impact many more aspects of daily living and lead to early death.

There are over a hundred types of diseases that can lead to ataxia. Unfortunately, with the exception of a few treatable diseases, for most patients, there are no existing drugs to slow or stop the worsening of symptoms over time. There is a huge unmet need in the Ataxia community for developing new effective treatments that can only come with continued progress in ataxia research.”

Gene Therapy

Genetic mutations are a common cause of ataxia. Researchers are working to develop gene therapies that can correct these mutations and restore normal function to affected cells.  

Stem Cell Therapy

Stem cells have the unique ability to differentiate into any type of cell in the body. And researchers are exploring ways to use stem cells to replace damaged or diseased cells in ataxia patients.

Non-invasive Brain Stimulation Techniques

Such as transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS). These techniques involve the use of electromagnetic fields to stimulate or inhibit specific regions of the brain. These techniques have been shown to improve motor function in patients with ataxia.

Challenges:

There are still significant obstacles to be overcome before effective ataxia treatments can be developed. 

Heterogeneity of the disease.

This is one of the biggest challenges. Heterogeneity means that there are many different types of ataxias. Each has its own unique underlying causes and symptoms.  This makes it difficult to develop treatments that are effective for all patients with ataxia.

The complexity of the nervous system.

The difficulty here is developing target therapies. Ones that can target specific cells or regions of the brain without causing unwanted side effects. Drugs that target specific ion channels or enzymes may also affect other cells or pathways in the nervous system. This can lead to unintended consequences.

There are many great institutions working on research for Ataxia.  I encourage you to read and study some of the fascinating information that is out there.  I am not a professional working in this area, so this article just touched on some of the basic ideas.  For more detailed information and what options may be available to you, please reach out to your doctor.  In addition, the National Ataxia Foundation is an organization I always use.


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