The cause of the disorder is a mutation in the gene GAS-FG14. “The gene mutation occurs in families where previous generations have clearly suffered from gait disorders. However, it may also occur in ‘sporadically’ affected patients,” says neurologist Synofzik. “In these cases, the patient might be the only one affected in the family.”

In this form of ataxia, the first symptoms often do not appear until the age of 50 to 60 or even later. The course of the disease is usually mild. “It could amost be assumed to be a ‘completely normal coordination disorder in the context of aging’ in older patients,” Syofzik says. In advanced stages of the disease, however, affected individuals are often depenent on a rolling walker and their speech becomes slurred, according to him.

Disease symptoms may be well treatable

In addition to the cause, the current study also provides initial indications of a possible therapy. The symptoms of the disease seem to be alleviated by 4-aminopyridine, a substance that is already available on the market.

The study was supported by the Else Kröner Fresenius Foundation (EKFS) as part of the Else Kröner Research School “PRECISE.net”.

More information

Prof. Dr. Matthis Synofzik
University Hospital Tübingen / Hertie Institute for Clinical Brain Research
University Hospital for Neurology
Hoppe-Seyler-Straße 3, 72076 Tübingen

Phone: 07071 29- 82060
Email: matthis.synofzik@uni-tuebingen.de