Queen Square Centre for Neuromuscular Diseases
- Our Services
- Our Research
- Free Access Centre Publications
- MRC Review Documents
- UK Translational Research Conference
- Studentships, Fellowships & Training
- Seminars, Conferences, Courses & Workshops
- About Us
Please click the relevant icon, to visit our Facebook group or Twitter account:
- Accelerated approval granted for new drug for muscular dystrophy
- NMCCC shortlisted for prestigious HSJ award
- Hospital staff go the extra miles in aid of brain charity
- New paper in Neuron highlights importance of slow axonal transport in motor neuron function; implications for neuromuscular diseases
- A New YouTube Patient and Public Engagement Channel from Researchers at Institute of Neurology
- Dr James Burge from MRC Centre presents results
of major international trial in periodic paralysis at American Academy of
Neurology 2016 (click 'free plenary sessions' and select 'James Burge'.
- Professor Michael Hanna talks about centre research
- Successful MRC centre study in inclusion body Myositis provides clues to new treatment approaches in Alzheimer's diseases and ALS
- New drug shows promise for muscle wasting diseases
- Report by Kathryn Munro on the Neuromuscular Complex Care Centre (NMCCC)
- On-line e-learning module on neuromuscular conditions for physiotherapists launched
- MRC Centre biomarker study published in Lancet Neurology
- Dr Pedro Machado wins award for his work on sporadic inclusion body myositis
- Brand new infographic highlighting key MRC Centre activities
- Professor Mary Reilly is elected first female President of the Association of British Neurologists
- UCL rated top UK university by research strength in the REF2014
Consultant Neurologist and Professor in Clinical Neurology
Charcot Marie Tooth Disease (CMT)
Our major research interest in peripheral neuropathies is the molecular basis of the inherited peripheral neuropathies of which CMT is the commonest.
Although we continue to identify new mutations in many of the common genes that cause CMT, in recent years we have focused on the rare forms of CMT. There are currently over 30 causative genes for CMT and 26 of these are defined as rare. As well as searching for disease causing mutations, a major focus of our research is on phenotype / genotype correlations to try to understand the pathogenesis of these rare forms of CMT. With this in mind we also run the only dedicated inherited neuropathy clinic in the UK in the centre for neuromuscular disease at NHNN from where we recruit many of our patients.
We have just obtained external funding to run the first therapeutic trial in the UK in CMT which will be commencing in November 2006. This trial is being done in collaboration with colleagues in Italy. Before starting the trial we developed a specific impairment and disability scale for CMT patients (CMTNS) together with colleagues in the US. This scale will be the primary outcome measure for the trial.
Hereditary Sensory and Autonomic Neuropathies
We have an active programme of research into the HSAN’s. These diseases are not as common as CMT but can be very disabling for patients. As well as searching for disease causing mutations in the five genes described to cause HSAN, we also study phenotype / genotype correlations to try to understand these disorders better. We have recently completed a large genotype / phenotype study of HSAN type 1 which revealed some interesting features including a more severe phenotype in males which we are currently investigating further. We have also identified a new causative gene for HSAN in a spontaneous rat model of the disease and are investigating the role in humans currently.
Professor Mary Reilly
UCL Institute of Neurology and
The National Hospital for Neurology and Neurosurgery
Phone: +44 (845) 155 5000 ext. 88317 or 020 3448317
Fax: +44 (20) 3448 3633