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GCH1 gene and Parkinson’s risk
Publication date: 5 August 2014
A study published in Brain, led by researchers at UCL Institute of Neurology, has shown that genetic mutations which cause a decrease in dopamine
production in the brain and lead to a form of childhood-onset Dystonia,
also play a role in the development of Parkinson’s disease.
Double mutation linked to frontotemporal dementia
Publication date: 5 August 2014
Immune system implicated in dementia development
Publication date: 18 June 2014
Vitamin B3 treatment for ataxia shows promise in first human trial
Publication date: 1 May 2014
Professor Hardy awarded Thudichum Medal by Biochemical Society
Publication date: 14 March 2014
Professor Hardy awarded Dan David Prize for work on the amyloid gene encoding APP
Publication date: 24 February 2014
Professor John Hardy, Head of Molecular Neuroscience at UCL Institute of Neurology, has been
awarded the Dan David Prize for his work on the amyloid gene encoding the amyloid precursor protein (APP).
This is a prestigious international prize which annually awards three prizes of US$ 1 million each for achievements having an outstanding scientific, technological, cultural or social impact on our world. Each year fields are chosen within the three Time Dimensions - Past, Present and Future.
NIHR award £650,000 for research into rare neurodegenerative and neuromuscular diseases
Publication date: 21 February 2014
The National Institute of Health Research (NIHR) Rare Diseases Translational Research Collaboration has awarded a total of £650,000 to extend research into rare neurodegenerative and neuromuscular diseases.
Predicting age at onset in SCA1 : does size matter?
Publication date: 18 December 2013
Research at the UCL Institute of Neurology, led by Paola Giunti, and the MRC National Institute for Medical Research, and published in the journal PloS Genetics, has shown how the length and the nature of gene repeat expansions affects spinocerebellar ataxia type 1 (SCA1).
Riboflavin Treatment for Childhood onset Motor Neuron Disease
Publication date: 5 December 2013
A clinical and genetic study based at UCL Institute of Neurology and the Institute of Child Health, recently published in Brain, has used next generation sequencing to identify riboflavin transporter gene defects as the defective pathway in a severe form of childhood motor neuron disease. Children with these defects significantly respond to high dose riboflavin.
Different gene expression in male and female brains helps explain differences in brain disorders
Publication date: 22 November 2013
UCL scientists have shown that there are widespread differences in how genes, the basic building blocks of the human body, are expressed in men and women’s brains.
Genetic mutations linked to Parkinson's Disease
Publication date: 12 August 2013
Research led by Dr Helene Plun-Favreau (UCL Institute of Neurology) has discovered how genetic mutations linked to Parkinson’s disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments.
The Michael J. Fox Foundation awards grant for Exenatide research
Publication date: 17 July 2013
Following encouraging results recently
published in the Journal of Clinical
Investigation describing the
progress of a cohort of patients treated with Exenatide for their Parkinson’s
disease (PD), The Michael J. Fox Foundation for Parkinson’s Research has
awarded a grant of $1.98 million to Dr. T Foltynie to pursue this avenue of
From Bedside to Bench in the Institute’s MRC Centre for Neuromuscular Diseases
Publication date: 1 July 2013
'Back translation' provides new insights into mitochondrial biology
Researchers working at the Institute’s MRC Centre for Neuromuscular Diseases have made a potentially important discovery relevant to understanding both mitochondrial biology and human mitochondrial neurological disease. The research is a good example of “back-translation” in which careful research observations in patients can inform knowledge about normal biology.
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.