News

Professor Lees receives Jay Van Andel Award for Outstanding Research in Parkinson’s Disease

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Professor Andrew Lees

The Jay Van Andel Award for Outstanding Achievement in Parkinson’s Disease Research was established to honour the memory and contributions of the Van Andel Institute’s founder.

Creating brain cells from skin to study Alzheimer's

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Dr Selina Wray

An early-career researcher at UCL Institute of Neurology has just been awarded £900,000 for a stem cell study to develop new treatments for dementia.

GCH1 gene and Parkinson’s risk

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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

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Pathological structures unique to cases with C9orf72 expansion mutation

Researchers at UCL Institute of Neurology have found for the first time a double mutation in a family with frontotemporal dementia (FTD), which may further our understanding of the underlying processes involved in these diseases.

Immune system implicated in dementia development

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Diagram showing areas of the brain affected by FTD

The immune system and body’s response to damaged cells play a key role in the development of frontotemporal dementia (FTD), finds new research led by the UCL Institute of Neurology.

Vitamin B3 treatment for ataxia shows promise in first human trial

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Dr Vincenzo Libri

An essential vitamin commonly known for processing fat and proteins in the body may hold the key to slowing the progression of Friedreich’s ataxia, according to findings published today in The Lancet.

Professor Hardy awarded Thudichum Medal by Biochemical Society

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Professor John Hardy - copyright Royal Society

We are delighted to announce that Professor John Hardy, Head of Molecular Neuroscience at UCL Institute of Neurology, has been unanimously awarded the 2015 Thudichum Medal by the Biochemical Society Awards Committee

Professor Hardy awarded Dan David Prize for work on the amyloid gene encoding APP

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Professor John Hardy - copyright Royal Society

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

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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?

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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

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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

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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

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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

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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 research.

From Bedside to Bench in the Institute’s MRC Centre for Neuromuscular Diseases

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'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

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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.

LINKS:
http://www.ucl.ac.uk/ion/departments/molecular/themes/neurogenetics
http://www.sciencedirect.com/science/article/pii/S0002929712005861

Hereditary Whispering Dystonia gene identified

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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

Repurposed cardiac sodium channel blocker brings significant benefit for patients with a rare neuromuscular disease

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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

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High dose riboflavin therapy

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.

Awards and congratulations

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Professor Cathy Price

Extracts from the Provost's newsletter.

"Warmest congratulations this week to:

Parliamentary Group Visit the Institute

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visit

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.

Professor Hardy receives IFRAD 2011 European Grand Prize for Alzheimer's Research

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Professor John Hardy FRS


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

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Nerve cells

Stem cell study offers hope for Parkinson’s patients

24 August 2011

Study reveals genetic clues underlying progressive supranuclear palsy

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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

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Andrew Lees

Seminal works by current and past UCL neuroscientists account for 10 out of the top 100 most cited Parkinson’s disease researchers, according to a list recently published in the Journal of Parkinson’s Disease.

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