Friedreich’s ataxia research progressing; no cure yet

Dear Dr. Roach: My 18-year-old niece has Friedreich’s ataxia and is getting used to living in her dorm, but requires a walker or wheelchair to get around. We know that there isn’t a cure or really any treatment outside of some potential drug trials and that the long-term prognosis is dire. But could a CRISPR type of technology hold promise?

I.C.N.

Friedreich’s ataxia is a hereditary disease that causes poor co-ordination of movement. It’s caused by a genetic mutation in the frataxin gene.

At present, there are no treatments available that can stop or even slow the progression of the disease. Without disease-modifying treatment, the average age that people succumb to this disease is 37, although some people can live into their 60s.

CRISPR-Cas9 is a system that allows precise insertion of genes into a person’s DNA. This system has been used in mouse models to remove abnormal DNA in the gene and restore the function of the gene protein. In theory, it holds promise for human treatment; in reality, there are many hurdles to overcome. There is very active research being done into gene therapy for many diseases, including Friedreich’s ataxia.

Even if the gene-editing possible with CRISPR-Cas9, or a similar, potentially even more powerful system, is not used in actual people with the illness, it has enabled scientists to learn a great deal more about the disease, and potentially to find new kinds of more traditional treatments.

I sincerely hope effective treatment comes in time for your niece and the many other people with Friedreich’s ataxia and other inherited conditions.

Dear Dr. Roach: Every day, we hear of concussion protocols in rugby, soccer and football. However, in boxing, the aim is to knock your opponent unconscious. What the heck?

Anon. A concussion is an acute traumatic brain injury, usually due to contact. You do not need to be knocked unconscious to have had a concussion. Most concussions occur without loss of consciousness. Further, loss of consciousness does not necessarily predict a worse concussion.

The severity of concussion is assessed 30 minutes after the injury through a clinical scale called the Glasgow Coma Scale. Confusion and amnesia are the most common symptoms of concussion, but others, including headache, dizziness, nausea and vomiting can occur, sometimes hours after the event.

Following concussion, many people have changes in mood and ability to concentrate, difficulty communicating and poor motor co-ordination. Recovery can occur in less than a week, or it can be delayed three weeks or longer. I have had patients with post-concussive symptoms months after the concussion.

Concussions are common in amateur boxing. One study found that concussions occur 13 per cent of the time a boxer steps into the ring for a competition.

With repeated head injury comes a risk of chronic traumatic encephalopathy, which you have probably read about in professional American football players.

It is not known exactly what proportion of boxers will develop CTE; however, the condition has been known for nearly a century as “dementia pugilistica.”

A study from 50 years ago estimated that 20 per cent of retired professional boxers had signs of chronic traumatic brain injury, but far fewer amateur boxers are thought to.

Medical professionals have debated banning boxing entirely, while others have recommended ways of making boxing safer, including, as you say, concussion protocols, in order to let the brain recover.