Research and Treatment Development for CANVAS

[@MichaelGirling-pk2ez]

Background first - I am a CANVAS patient with dry cough first presenting in 1995 and first symptom of imbalance in 2011. I now prefer to walk with a stick outside of the house. This was a very useful presentation that I came across after the "live" session but here's my question: I have not studied the subjects involved in Dr Cortese's presentation so please forgive me if this is an elementary mistake.. If the recessive gene is present in 1/10 cases and it requires the presence of this gene in both partners, isn't the expected frequency of the disease 1/100? My neurologist has said the frequency (so far) is about 5 in a million. A big difference.

[@ricovomdux]

Dr Cortese says the AAGGG sequence has a population incidence estimated between 1% to 7%. That means that we are bound to find between 25-1225 person per million with CANVAS.