A genetic study at UCL Institute of Neurology
has identified the gene responsible for a rare form of dystonia called
‘hereditary whispering dysphonia’ or DYT4. The study found that a
mutation in the autoregulatory
domain of the β-tubulin 4a gene (TUBB4a) is responsible for this
disease which is known to affect a large family who emigrated to
Australia from the UK in the late 19th century.
This unusual form of dystonia is characterised by a progressive limb and cervical dystonia together with a severe dysphonia which resulted in most of the affected individuals being unable to speak and who exhibited an unusual ‘hobby horse’ gait. This was first reported by the late Neville Parker in 1985 who instigated a collaboration with Anita Harding to try to identify the genetic cause of this disease in this family. Using the exome sequencing platform at ION together with a robust genetic linkage study, a team led by Prof Henry Houlden has identified the causative gene, with the results now published in the Annals of Neurology.
The mutation is located within a very small region of the TUBB4a protein that is important in auto-regulating the levels of TUBB4a mRNA. As part of previous work published in 1988 in Nature, it was shown that mutations in this region result in a loss of this autoregulatory function. This disease mechanism has not hitherto been reported and provides further insight into the pathogenesis of dystonia in general.
Publication date: 20 December 2012
Professor Nicholas Wood appointed as neuroscience programme director for UCLH NIHR Biomedical Research Centre (BRC)
Professor Wood holds the Galton
Chair in Genetics at UCL and has
been a Professor at the Institute of Neurology since 2001. His group
have made major contributions to our understanding of the genetic basis
of neurological disease.
Professor Wood is very excited at the prospect of helping the NIHR BRC deliver its ambitious programme of experimental Medicine and in particular the opportunities it presents to the Institute of Neurology.
"It seems important to me that in translating medical discoveries that we address fundamental issues based on the biology of neurological disease, and use the human disease as the model system to be studied" said Professor wood.
Publication date: 17 December 2012
Congratulations to Professors Dmitri Rusakov (UCL Institute of Neurology), Robin Ali (UCL Institute of Ophthalmology) and Patrick Haggard (UCL Institute of Cognitive Neuroscience), who have all recently been awarded European Research Council (ERC) Advanced Grants. These highly competitive research grants are among the most sought after Principal Investigator awards offered from the ERC, and as stated on the ERC’s website: “allow exceptional established research leaders of any nationality and any age to pursue ground-breaking, high-risk projects that open new directions in their respective research fields or other domains.”
Publication date: 10 December 2012
Dr Andreas Charidimou, a PhD student at the UCL Institute of Neurology, has been awarded the 2012 Belgian Stroke Council Award, for his work "Spectrum of transient focal neurological episodes in cerebral amyloid angiopathy: multicentre MRI cohort study and meta-analysis", a collaborative study undertaken in the UK and Belgium.
Publication date: 8 December 2012
New drugs derived from components of a specific diet used by children with severe, drug-resistant epilepsy could offer a new treatment, according to research published today in the journal Neuropharmacology.
Publication date: 27 November 2012
Researchers at the UCL Institute of Neurology have made a breakthrough in the treatment of drug-resistant epilepsy. They used gene therapy in an experimental model of epilepsy to allow over-excitable neurons to be inhibited by light. When they shone a laser via an optical fibre into the epileptic brain region where the gene therapy was delivered, the seizures were rapidly suppressed. For long-term treatment they used a different gene therapy to make neurons in the epileptic brain regions less excitable. This treatment both prevented the development of epilepsy, and also progressively stopped seizures when delivered after epilepsy was already established. These treatments had no detectable effects on normal behaviour. Although at an early stage, these new treatments could eventually be used in people with epilepsy that cannot be controlled by medication and where the site of initiation of the seizures can be defined using high-resolution electrical mapping.
Publication date: 22 November 2012
Professor Sarah Tabrizi, UCL Institute of Neurology and principal investigator of the TRACK-HD study, discusses a new research partnership between the Institute and Horizon Discovery, a technology company that provides researchers with tools to support translational genomics research. Read more: Genetic Engineering and Biotechnology News
Publication date: 12 November 2012
Professor Alan Thompson, Dean of the Faculty of Brain Sciences, has been awarded a lifetime Honorary Membership from the European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) at its 28th Congress on 13 October 2012 in Lyon, France. This is the first time this award has been given in the 28 year history of the largest international multiple sclerosis (MS) organisation and reflects Professor Thompson’s outstanding international reputation within the field of MS research and his extraordinary contributions to ECTRIMS, an organization which brings together European researchers in MS and connects MS researchers worldwide.
Publication date: 18 October 2012
New Gowers’ biography released
Publication date: 12 October 2012
Repurposed cardiac sodium channel blocker brings significant benefit for patients with a rare neuromuscular disease
An international multi-centred trial published in the leading medical journal JAMA (The Journal of the American Medical Association) this week, demonstrates a significant treatment benefit using the repurposed cardiac drug, mexiletine, in a genetically stratified cohort of patients with the rare genetic neurological disorder, non-dystrophic myotonia. Professor Michael Hanna, Director of the MRC Centre for Neuromuscular Diseases led the UCL team including MRC clinical training fellow Dr Dipa Raja Rayan as the top recruiting site in this international trial.
Publication date: 3 October 2012
A new light-based technique for measuring levels of the toxic protein that causes Huntington’s disease (HD) has been used to demonstrate that the protein builds up gradually in blood cells. Published today (17th) in the Journal of Clinical Investigation, the findings shed light on how the protein causes damage in the brain, and could be useful for monitoring the progression of HD, or testing new drugs aimed at suppressing production of the harmful protein.
Publication date: 24 September 2012
Professor Andrew Lees has been awarded the German Society of Neurology’s 2012 Dingebauer Prize for outstanding scientific attainment in the field of Parkinson's disease and Neurodegenerative Disorders. Prof Lees is to receive the award on 27th September 2012, during the 85th congress meeting in Hamburg.
Publication date: 10 September 2012
An international consortium of scientists, led jointly by researchers at UCL’s Institute of Neurology and Duke University, USA, has identified the specific genetic mutation that causes Alternating Hemiplegia, a rare neurological condition affecting an estimated one child in every million. Using the newest genetic technology, next-generation sequencing, the study published in Nature Genetics, showed that de novo mutations in the gene ATP1A3 cause the condition (de novo mutations are genetic mutations not present in the parents’ genes).
Publication date: 13 August 2012
It was with great sadness that we learned of the death of Dr John Morgan-Hughes.
Publication date: 10 August 2012
A paper highlighting early results from the International Carotid Stenting Study (ICSS), a UCL-led multi-centre clinical trial which compared two treatments for carotid narrowing was recently listed in the Lancet as one of their ten most cited papers in 2010-2011. Narrowing of one of the carotid arteries in the neck (stenosis), which supply blood to the brain, is one of the major causes of stroke and is usually caused by deposits of fat in the wall of the artery, known as atherosclerosis.
Publication date: 24 July 2012
Researchers in the Department of Brain Repair and Rehabilitation have found that giving the drug rotigotine as a skin patch can improve inattention in some stroke patients.
Publication date: 4 July 2012
A genetic study based at UCL Institute of Neurology and the NIH in the United States has identified two riboflavin transporter genes that are defective in children with a type of motor neuron disease called Brown-Vialetto van Laere syndrome.
Publication date: 2 July 2012
Extracts from the Provost's newsletter.
Publication date: 27 June 2012
We are very pleased to announce that at the Wellcome Image Awards
2012 ceremony which took place in London last night Robert Ludlow,
medical photographer at the UCL Institute of Neurology, UCLH National
Hospital for Neurology and Neurosurgery Medical Illustration Unit was
named as the overall winner.
Publication date: 21 June 2012
Congratulations to Dr Andreas Charidimou who has been awarded a prestigious Junior Investigator Award for outstanding research in stroke by a young investigator at the XXI European Stroke Conference 2012.
Publication date: 21 June 2012
Like cancer and HIV decades before, the solution to stopping dementia in its tracks has remained stubbornly intransigent. But there is hope.
The race to find a cure for dementia has never been more critical: within ten years there will be around one million people in the UK with this devastating condition – many of whom will spend their last few years severely impaired and dependent on others for care.
The NHNN and UCL Institute of Neurology are at the research epicentre and have recently been awarded grants totaling over £30 million.
Publication date: 1 June 2012
A new neuroimaging analysis centre which will radically improve the speed of radiological diagnosis of neurological disease and pioneer research has been officially opened.
Publication date: 1 June 2012
Congratulations to Simon Shorvon, professor of clinical neurology at the UCL Institute of Neurology (Department of Clinical and Experimental Epilepsy), who has been appointed Harveian librarian at the Royal College of Physicians
Publication date: 28 May 2012
Members of the All-party Parliamentary Group on Parkinson’s disease visited the UCL Institute of Neurology today to see at first hand the research being done at UCL to understand the causes of Parkinson’s and to develop novel treatments for the disease.
Publication date: 25 May 2012
Prestigious European Science Foundation networking grant awarded to Institute of Neurology professor
Congratulations to Professor Xavier Golay (Department of Brain Repair & Rehabilitation), who has been awarded a networking grant from the European Science Foundation COST office, the first grant of this kind awarded to UCL. The prestigious award will be used to support the Arterial Spin Labelling (ASL) Initiative in Dementia (AID) Action network, which aims to coordinate research in this area and optimise the use of facilities already existing in Europe. The network, which runs for four years, held its first networking event with the official Kick-Off Meeting in Brussels in December 2011.
Read more>> European Institute for Biomedical Imaging Research (see page 30) and COST website
Publication date: 25 April 2012
18 April 2012
Publication date: 19 April 2012
UK Prime Minister David Cameron has visited the Dementia Research Centre at UCL as part of this morning’s government announcement that dementia research funding will be doubled to £66 million by 2015.
Publication date: 27 March 2012
IoN researchers will be taking part in an interactive evening of neuroscience, music and dance aimed at all ages, being held at the British Library on Friday 16th March
Publication date: 28 February 2012
As reported in the Daily Mail:
Publication date: 24 February 2012
Listen to Dr David Werring from UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery’s Stroke Research Group, as he discusses the importance of recognising cerebral amyloid angiopathy, a neurological condition that doctors believe increases the risk of haemorrhagic stroke and dementia.
Publication date: 15 February 2012
Publication date: 8 February 2012
The Queen Square Library has been awarded a grant of £82k from the Wellcome Trust to catalogue and preserve the collections of case notes and films held as part of the Queen Square Archive. Significant work on the archives has already been carried out as part of the recent £1m refurbishment of the Library, funded by the National Brain Appeal and the Brain Research Trust, which included the creation of a base for the archives of the National Hospital and a museum. A web site is now available providing access to results of the work carried out to date.
Publication date: 25 January 2012
The EpiPGX Consortium, involving 15 partners from 8 countries, has received almost €6 million funding from the European Union FP7 programme to investigate the genetic basis of responses to antiepileptic drugs (AEDs) in epilepsy.
Over 50,000,000 people across the world have epilepsy. For many people, AEDs are simply not available, or the choice is extremely limited. In other countries, several AEDs are available to be prescribed, but the evidence guiding choice of drug for an individual patient is very limited. The EpiPGX Consortium will explore the influence of genetic variation on responses, both desirable and undesirable, to AEDs, aiming to identify genetic variants that will guide treatment choices at the individual level.
The Consortium is coordinated by Professor Sanjay Sisodiya, UCL Institute of Neurology (Department of Clinical and Experimental Epilepsy), with the following partners: Université Libre de Bruxelles (Belgium), Istituto Giannina Gaslini (Italy), Eberhard Karls Universitaet Tuebingen (Germany), Stichting Epilepsie Instellingen Nederland (The Netherlands), Universitaetsklinikum Bonn (Germany), Royal College of Surgeons in Ireland (Ireland), Belfast Health and Social Care Trust (UK), Islensk Erfdagreining EHF (Iceland), Universite Du Luxembourg (Luxembourg), Universitair Medisch Centrum Utrecht (The Netherlands), The University of Liverpool (UK), Imperial College of Science, Technology and Medicine (UK), University of Glasgow (UK) and GABO:mi Gesellschaft fur Ablauforganisation:milliarium mbH & Co. KG (Germany).
The Consortium welcomes collaboration. Please contact firstname.lastname@example.org for further information.
Publication date: 9 January 2012
We are delighted to announce that Professor Clare Fowler, UCL Professor of Uro-Neurology at the Institute and Honorary Consultant Uro-Neurologist at the NHNN, UCLH Trust, has been awarded a CBE in the New Year Honours List "for services to Uro-Neurology".
Publication date: 4 January 2012
A patient who is part of the first first UK trial to evaluate the impact of 'deep brain stimulation' on Tourette's - a collaboration between the UCL Institute of Neurology (Unit of Functional Neurosurgery) and the National Hospital of Neurology and Neurosurgery - has experienced a dramatic recovery.
Publication date: 2 January 2012