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Neurodevelopmental, neurodegenerative and neuromuscular disorders associated with defective autophagy
Publication date: 18 June 2013
Jun 18, 2013 12:30:00 PM
End: Jun 18, 2013 12:00:00 AM
12.30pm on Tuesday 18th June 2013.
Seminar series of the MRC for Neuromuscular Diseases: Dubowitz Neuromuscular Centre.
Gene mutation causes familial form of cranio-cervical dystonia
Publication date: 25 January 2013
Researchers from UCL’s
Institute of Neurology have identified mutations in the gene ANO3 as the
cause of a familial form of cranio-cervical dystonia. Dystonia itself
is a common neurological disorder
which results in involuntary muscle spasms and is characterised by
severe abnormal postures due to involuntary muscle spasms and affects an
estimated 70,000 people in UK. Currently, there are no cures found for
this disabling condition.
The team of researchers, led by Professor Nick Wood and Professor
Kailash Bhatia found six changes throughout the gene that might be
linked to cranio-cervical dystonia, which triggers abnormal twisting or
tremulous movements affecting the face, neck and arms.
Of these six changes, three have shown to segregate with disease in
three separate families. The work was published in December in the
American Journal of Human Genetics (Charlesworth et al., 2012).
Insights into the causes of rarer, familial forms of the disease may
help shed light on the cellular pathways involved in the disease as a
whole. The new ANO3 gene determines a channel that is found in the
striatum, a part of the brain concerned with movement.
It is hoped that an ion channel might represent a feasible target for
the development of new treatments.
Hereditary Whispering Dystonia gene identified
Publication date: 20 December 2012
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.
Repurposed cardiac sodium channel blocker brings significant benefit for patients with a rare neuromuscular disease
Publication date: 3 October 2012
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.
Genetic study identifies treatable pathway in childhood motor neuron disease
Publication date: 2 July 2012
Awards and congratulations
Publication date: 27 June 2012
Parliamentary Group Visit the Institute
Publication date: 25 May 2012
Professor Hardy receives IFRAD 2011 European Grand Prize for Alzheimer's Research
Publication date: 26 September 2011
Congratulations to UCL Institute of Neurology’s Professor John Hardy, who has been awarded the IFRAD 2011 European Grand Prize for Alzheimer's Research. The prize, worth €150,000, will be awarded to Professor Hardy on September 21st, World Alzheimer’s Day, during IFRAD's annual Gala. Professor Hardy was awarded the prize in recognition of his pioneering work in identifying the biological cascade of Alzheimer's disease.
Stem cell study offers hope for Parkinson’s patients
Publication date: 24 August 2011
Study reveals genetic clues underlying progressive supranuclear palsy
Publication date: 20 June 2011
Scientists are one step closer to understanding the genes associated with the rare neurodegenerative disease, progressive supranuclear palsy (PSP), according to a study published in the current Nature Genetics. The genomewide association study was completed by an international consortium of researchers, including members of UCL Institute of Neurology’s Reta Lila Weston Institute (RLWI).
UCL neuroscientists among the most cited in Parkinson’s disease research
Publication date: 15 June 2011
Professor Hanna invited to give prestigious ANZAN Lecture
Publication date: 8 April 2011
Congratulations to UCL Institute of Neurology Professor Michael Hanna who has been invited to give the prestigious W Ian MacDonald Lecture at the Australian and New Zealand Association of Neurologists (ANZAN) Annual Scientific Meeting in Hobart, Australia. The W Ian McDonald Lecture was introduced to ANZAN in 2008 to honour neurologist W Ian McDonald’s (1933-2006) outstanding academic career. New Zealander McDonald spent much of his career at the National Hospital of Neurology and Neurosurgery and UCL Institute of Neurology, where he was a leading figure in the
Researchers identify 5 new genetic variations in total of 11 thought to be important in Parkinson’s Disease risk
Publication date: 2 February 2011
Parkinson’s Disease (PD) is a common neurodegenerative disease, affecting >2% of people over the age of 75 years. Most individuals develop the disorder in their 60’s and 70’s. In the last decade it has become clear that there is a substantial genetic component to the disorder.
World-leading scientist secures funding for gene research
Publication date: 10 December 2010
A world leader in dementia research is embarking on a major study into Alzheimer’s disease in London, funded by a grant from the Alzheimer’s Research Trust, the UK’s leading dementia research charity.
Award for Professor Lees
Publication date: 28 November 2010
Professor Andrew Lees (Director of the Reta Lila Weston Institute of Neurological Studies) has been elected as a foreign honorary member to the Academia Nacional de Medicina in Rio de Janeiro.
Parkinson's UK Fellowship Award
Publication date: 14 October 2010
Dr Patrick Lewis (IoN Department of Molecular Neuroscience) had been awarded a Parkinson's UK career development fellowship to study the molecular impact of mutations in LRRK2, which constitute the most common genetic cause of Parkinson's disease.
Developing a cell library resource for dementia research
Publication date: 10 September 2010
Exciting research will develop an essential research tool for dementia scientists around the world.
IoN brings the scientific method to London primary schools
Publication date: 20 April 2010
Professor Lees awarded first Lord Brain Memorial Lecture
Publication date: 26 March 2010
Michael J. Fox Foundation awards IoN researcher grant to advance Parkinson's research.
Publication date: 4 March 2010
The Michael J. Fox Foundation (MJFF) for Parkinson's Research has awarded a $624,790 grant to Dr Patrick Lewis (Department of Molecular Neuroscience) for his work contributing to a potential new treatment approach for Parkinson's disease.
New centre brings hope to patients with muscle wasting diseases
Publication date: 5 January 2010
The official opening, which took place in December, of one of Europe’s first comprehensive clinical and research centres into adult muscle wasting neuromuscular diseases will bring hope to thousands of patients with disabling and life threatening conditions.
The new MRC Centre for Neuromuscular Diseases at The National Hospital for Neurology and Neurosurgery (NHNN) and the UCL Institute of Neurology will combine excellent patient care with cutting edge scientific research to develop new treatments for patients.
IoN scientist to front Alzheimer’s Research Trust national appeal
Publication date: 23 November 2009
Professor John Hardy joins the ranks of science greats
Publication date: 15 March 2009
Professor John Hardy (Reta Lila Weston Institute of Neurological Studies & the Department of Molecular Neuroscience) has been recognised for his exceptional contribution to science with his election to the Fellowship of the Royal Society, it was announced today (Friday 15 May). Fellows of the UK's national academy of science are leaders in the fields of science, engineering and medicine and Professor Hardy joins seven other Fellows at Queen Square, and the likes of Isaac Newton, Charles Darwin and Stephen Hawking.