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IoN News Archive (2012)

Hereditary Whispering Dystonia gene identified

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.

http://onlinelibrary.wiley.com/doi/10.1002/ana.23832/abstract

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.
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UCL neuroscientists awarded highly competitive ERC Advanced Grants

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.” More...

Belgian Stroke Council Award to UCL student

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. More...

Drugs could provide new treatment for epilepsy

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. More...

Dr John Morgan-Hughes

Detecting stroke

New Years Honours

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