Elizabeth Philippas has co-ordination problems. Her movements are unsure and sometimes uncontrolled because she has Ataxia. It is a hereditary and incurable neurological disorder which attacks the central nervous system.
But at the University Hospital in Bonn researchers are working within the Eurosca project (funded by the European Commission) to develop new medications to help people living with Ataxia.
The first symptoms of the disease include slight, almost imperceptible coordination problems like for example an unsteady walk. Over the years coordination deteriorates. After about 15 years the patient usually requires walking aids, sometimes a wheelchair.
Since her diagnosis in 1999, Elizabeth’s life has completely changed and she has had to give up her job as a nurse. She was diagnosed after she started belly dancing in 1998 and her teacher noticed that she had problems keeping her balance.
Elizabeth wasn’t completely surprised by her diagnosis. Ataxia is very rare but her mother and her grandfather both had the disorder and she knew it was hereditary.
The condition is triggered by a defective gene and at the University Hospital in Bonn researchers have discovered exactly which gene causes Ataxia. There are various different forms of the disorder but all of them produce a protein that penetrates the brain and destroys the nerve cells there.
In the brain’s nerve cells of a SCA3 patient like Elizabeth a protein builds lumps in the nuclei of the cells. This can be seen in various parts of the brain. It is these proteins and aggregates that lead to the death of the cell.
To discover the way the disease functions and to develop possible treatments, researchers at the University Clinic in Tubingen have bred mice with the mutated gene. They want to find out why the gene only kills brain cells although it is present throughout the body. In the test a healthy mouse can walk along the rod easily. But an affected mouse cannot because the impulses from the brain are no longer transferred to the legs properly. The experiments with mice have provided valuable insight into the way Ataxia develops.
Professor Olaf Riess is the coordinator of the Eurosca project. He says, “In this mouse model we can see the activity of the Ataxia gene. We can see that in the heart, the gene is definitely active but there is no damage to the heart. On the other hand here in the brain we can see that the nerve cells affected by the gene are in fact being killed. This is where we need to develop medication that is able to penetrate the nerve cells of the brain and prevent the damage.”
The basis of the Eurosca research is the collection of data from patients like Elizabeth. It is hoped that this together with the research could lead to treatments to slow the development of the disease and extend the life expectancy of people with Ataxia.
Ataxia Awareness Day is 25th September.
For more information about Ataxia see: