New Fragile X-premutation Service at St Mary’s Hospital, Manchester
My name is Dr Iris Trender-Gerhard, and I am a consultant neurologist and clinical scientist in the Huntington's disease (HD) clinic & research team in Manchester. As it happened, one of our genetic counsellors, Michelle Bottomley, who looks after families with Fragile X since many years, asked me if I could see some individuals with Fragile X premutation who had either longstanding mental health problems (such as depression, anxiety, obsessive-compulsive disorder as well as autism spectrum disorders), or had started to experience some problems with their balance, control over movements (slowness, tremor) or memory difficulties.
Based on my experience with other neurogenetic conditions like HD, I had an idea of the multifaceted problems Fragile X premutation carriers can be confronted with (like Fragile X-associated-Tremor-Ataxia Syndrome, premature ovarian failure and other problems). Soon I had to realise that these individuals often neither get the support they would need nor will they get the clinical attention and, where necessary, investigations that lead to adequate treatment and access to supportive care. At the beginning of this year, I succeeded in setting up a new clinic for Genetic Forms of Movement Disorders & Neurodegeneration, where I now can also see individuals with Fragile X premutations and their relatives. We want to establish a comprehensive service for patients and families with Fragile X, as well as set up a database for future research and treatment trials.
Working hand in hand with our genetic counsellors and other disciplines (e.g. endocrinology, neuroradiology, neurophysiology), we offer a dedicated, comprehensive service to:
Establish a diagnosis, including clinical assessment, diagnostic testing initiation of further investigations (e.g. lab investigation, brain imaging, nerve conduction studies)
Refer & coordinate access to other services such as occupational therapy, physiotherapy, behavioural therapy, social services
Offer genetic counselling for patients and family members
Educate individuals and families so they understand the condition, how we can help & support them and what they can do about it
Since the relatively recent discovery of FXTAS and other problems caused by the Fragile X-premutation, there is loads we still don’t know. Research looking into the effects this genetic mutation has on the brain will help us to understand why and how clinical symptoms develop. Insight into the underlying cause of the condition is the base of developing new therapeutic strategies.
We conduct various studies in neurodegenerative conditions together with our academic colleagues at the Wolfson Molecular Imaging Centre here in Manchester, and are in the process of setting up a new FXTAS research brain imaging project.
The clinics for adults with possible Fragile X-associated symptoms are held on the fourth Wednesday of the month at the Genetics Department (address see below). Referrals are accepted from GPs, medical specialists, specialist nurses and other healthcare professionals throughout the North-West region. Referrals should be made to:
Dr Iris Trender-Gerhard, Consultant Neurologist
Manchester Centre for Genomic Medicine 6th floor, St Mary's Hospital
Manchester M13 9WL
phone: +44 -(0)161-2766510 (secretary Isobel Atkinson)
Family members, who may want to discuss how such a condition that runs in the family may impact on them and consider predictive genetic testing, can also be referred to:
Michelle Bottomley, Principal Genetic Counsellor
Address see above
For further information also see our departmental website: www.mangen.co.uk
From the Fragile X Society:
We are delighted that the team are running this new service and look forward to working with them where possible. We hope that the development of this service will highlight to other NHS trusts round the UK to recognise and provide support to those living with all aspects of Fragile X.