Male carriers of the fragile X premutation

Imaging male carriers of the fragile X premutation

We are currently recruiting for a new study of men who carry the Fragile X premutation.

The study aims to examine the characteristics of men who carry the fragile X premutation and is being run at the Patrick Wild Centre in Edinburgh by Dr Andrew Stanfield and Stephanie Brown, a PhD student.

Some men who are carriers of the fragile X premutation develop a condition called the Fragile X-associated Tremor Ataxia Syndrome (FXTAS) in the later years of their life. People with FXTAS may experience a tremor, balance problems and gradual worsening of memory. In this study we are aiming to identify the specific brain changes that occur in men who carry the premutation and discover which are associated with later FXTAS and which are not. If our study is successful we hope it would lead to the earlier identification of people at risk of developing FXTAS and improve their treatment.

For this study we hope to recruit men with the premutation who are between the ages of 20 and 70 and who do not have a diagnosis of FXTAS.

We are also aiming to recruit a group of men who do not have the premutation who will act as a comparison group. This could be any man, whether they are a direct relative or not, as long as they do not carry the premutation.

Taking part in the study would involve travelling to Edinburgh for a brain scan, a blood test and also completing some additional tests and questionnaires. All expenses incurred will be refunded.

If you are interested in finding out more or being a part of the study, then please get in touch with one of us:

Stephanie Brown: 0131 537 6687 or

Dr Andrew Stanfield: 0131 537 6265 or