Publications

Publication: Nature Medicine

Na Cai, Aurora Gomez-Duran, Ekaterina Yonova-Doing, Kousik Kundu, Annette I. Burgess, Zoe J. Golder, Claudia Calabrese, Marc J. Bonder, Marta Camacho, Rachael A. Lawson, Lixin Li, Caroline H. Williams-Gray, Emanuele Di Angelantonio, David J. Roberts, Nick A. Watkins, Willem H. Ouwehand, Adam S. Butterworth, Isobel D. Stewart, Maik Pietzner, Nick J. Wareham, Claudia Langenberg, John Danesh, Klaudia Walter, Peter M.Rothwell, Joanna M. M. Howson, Oliver Stegle, Patrick F. Chinnery & Nicole Soranzo

23 August 2021


Summary

Researchers have identified associations between mtDNA variants and an amino acid, N-formylmethionine (fMet), and effects of fMet on the risk of developing a range of common, late-onset illnesses. Read the full story.

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Publication: Journal of Neurotrauma

Jeanette Tas, Erta Beqiri, Ruud C. van Kaam, Marek Czosnyka, Joseph Donnelly, Roel H. Haeren, Iwan C.C. van der Horst, Peter J. Hutchinson, Sander M.J. van Kuijk, Analisa L. Liberti, David K. Menon, Cornelia W.E. Hoedemaekers, Bart Depreitere, Peter Smielewski, Geert Meyfroidt, Ari Ercole, and Marcel J.H. Aries

16 August 2021


Summary

It is increasingly recognised that patients with traumatic brain injury (TBI) may benefit from individualised clinical management. Cerebral autoregulation (CA) may allow for maintaining cerebral blood flow for adequate energetic requirements in response to changes in mean arterial pressure (MAP), by means of vasoconstriction (the narrowing (constriction) of blood vessels by small muscles in their walls) and vasodilation (widening of blood vessels).

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Publication: Journal of Neurology, Neurosurgery and Psychiatry

Bernard P H Cho, Stefania Nannoni, Eric L Harshfield, Daniel Tozer, Stefan Gräf, Steven Bell, Hugh S Markus

12 March 2021


Researchers in Cambridge have discovered that people with a small change in a gene known as NOTCH3 could be at greater risk of having a stroke and developing vascular dementia.

Their research looked at the clinical records (medical notes) and genetic data of more than 200,000 healthy volunteers from the UK BioBank between 2006-10.

They found that around 1 in 450 carried a variant (a small difference) in the NOTCH3 gene, which provides instructions for making a protein essential for the maintenance of blood vessels, including those that supply blood to the brain.

The researchers then looked at how many people with and without changes in NOTCH3 had had a stroke, vascular dementia or other related conditions and discovered that variant carriers had more than a two-fold increase in the odds of stroke.

Vascular dementia was also more frequent in people who have the NOTCH3 variant. There was also an increased association with cerebral small vessel disease (SVD), which is a major cause of stroke and dementia.

This study shows that NOTCH3 variants are common in the general population and these variants are associated with increased risk of both stroke and vascular dementia, and with MRI markers of SVD. This demonstrates that genetic variation in the NOTCH3 gene accounts for a much greater proportion of stroke in the general population than previously thought.

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Publication: New England Journal of Medicine

Peter J. Hutchinson, Ellie Edlmann, Diederik Bulters, Ardalan Zolnourian, Patrick Holton, Nigel Suttner,  Kevin Agyemang, Simon Thomson, Ian A. Anderson, Yahia Z. Al-Tamimi, Duncan Henderson, Peter C. Whitfield, Monica Gherle, Paul M. Brennan, Annabel Allison,  Eric P. Thelin, Silvia Tarantino, Beatrice Pantaleo, Karen Caldwell, Carol Davis-Wilkie, Harry Mee, Elizabeth A. Warburton, Garry Barton, Aswin Chari, Hani J. Marcus, Andrew T. King, Antonio Belli, Phyo K. Myint, Ian Wilkinson, Thomas Santarius, Carole Turner,  Simon Bond, Angelos G. Kolias,

16 December 2020


Summary:

Chronic subdural haematoma -the build-up of ‘old’ blood in the space between the brain and the skull, usually as a result of minor head injury – is one of the most common neurological disorders and mainly affects older people.

A commonly used steroid, dexamethasone, has been used alongside surgery or instead of it since the 1970s. However, consensus has been lacking regarding the use of dexamethasone, especially since no high-quality studies confirming its effectiveness had been conducted until now.

In a randomised trial, patients received a two-week tapering course of dexamethasone and were compared with 373 patients randomised to an identical matching placebo. Results showed patients who received dexamethasone had a lower chance of favourable recovery at six months compared to patients who received placebo. Read the full press release. 

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Publication: International Journal of Stroke

Stefania Nannoni , Rosa de Groot, Steven Bell, Hugh S Markus

26 October 2020


Summary:

Fourteen out of every 1,000 COVID-19 patients admitted to hospital experience a stroke, a rate that is even higher in older patients and those with severe infection and pre-existing vascular conditions.

A team of researchers at the Stroke Research Group, carried out a systematic review and meta-analysis of published research into the link between COVID-19 and stroke. In total, the researchers analysed 61 studies, covering more than 100,000 patients admitted to hospital with COVID-19. The researchers found that stroke occurred in 14 out of every 1,000 cases. The most common manifestation was acute ischemic stroke, which occurred in just over 12 out of every 1,000 cases. Brain haemorrhage was less common, occurring in 1.6 out of every 1,000 cases. Most patients had been admitted with COVID-19 symptoms, with stroke occurring a few days later.

Read the full news story

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Publication: Nature Communications

Andrea I. Luppi1, Michael M. Craig, Ioannis Pappas, Paola Finoia, Guy B. Williams, Judith Allanson, John D. Pickard, Adrian M. Owen, Lorina Naci, David K. Menon & Emmanuel A. Stamatakis 

10 October 2019


Summary:

Researchers used functional Magnetic Resonance Imaging (fMRI) to scan the brains of healthy volunteers and brain injured patients who had been awake but no signs of awareness or in a minimally conscious state, to understand what happens to the brain when consciousness is lost.

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Publication: Journal of Neurology

Nye CJS, Wagner A, Kousin-Ezewu O, Jones JL, Coles AJ.

4 February 2019

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Publication: Neurology

Tay J, Tuladhar AM, Hollocks MJ, Brookes RL, Tozer DJ, Barrick TR, et al.

12 March 2019

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Publication: Neurology

Traylor M, Tozer DJ, Croall ID, Lisiecka Ford DM, Olorunda AO, Boncoraglio G, et al.

19 February 2019

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Publication: JAMA

Brown JWL, Coles A, Horakova D, Havrdova E, Izquierdo G, Prat A et al.

15 January 2019

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Publication: Nature Communications

Keogh MJ, Wei W, Aryaman J, Walker L, van den Ameele J, Coxhead J, et al.

15 October 2018

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Publication: Brain

Zanier ER, Bertani I, Sammali E, Pischiutta F, Chiaravalloti MA, Vegliante G, et al.

1 August 2018

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Publication: Brain

Newton T, Allison R, Edgar JR, Lumb JH, Rodger CE, Manna PT, et al.

22 February 2018

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Publication: Expert Review of Neurotherapeutics

Killen MJ, Giorgi-Coll S, Helmy A, Hutchinson PJ, Carpenter KL.

8 March 2019

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Publication: BMJ

Loes CA Rutten-Jacobs, Susanna C Larsson,, Rainer Malik,, Kristiina Rannikmäe, MEGASTROKE consortium, International Stroke Genetics Consortium, Cathie L Sudlow, Martin Dichgans, Hugh S Markus, professor2, Matthew Traylor

24 October 2018


Summary:

Researchers investigated whether a genetic risk score for stroke is associated with actual (“incident”) stroke in a large population of British adults.

They developed a genetic risk score based on 90 gene variants known to be associated with stroke from 306,473 white men and women in the UK Biobank – a database of biological information from half a million British adults.

Participants were aged between 40 and 73 years and had no history of stroke or heart attack. Adherence to a healthy lifestyle was based on four factors: non-smoker, diet rich in fruit, vegetables and fish, not overweight or obese (body mass index less than 30), and regular physical exercise.

A high genetic risk combined with an unfavourable lifestyle profile was associated with a more than twofold increased risk of stroke compared with a low genetic risk and a favourable lifestyle. Full story here

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Publication: Brain

Smets I, Fiddes B, Garcia-Perez JE, He D, Mallants K, Liao W, et al.

18 January 2018

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Publication: The Lancet Neurology

Prof Andrew I R Maas, Prof David K Menon, P David Adelson, Nada Andelic, Michael J Bell, Antonio Belli et al.

6 November 2017

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Publication: Neurology Genetics

Lewis-Smith D, Kamer KJ, Griffin H, Childs A-M, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF.

3 March 2016

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Publication: Genome Research

Keogh MJ, Wei W, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie C, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF

21 December 2016

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Publication: N Engl J Med

Hutchinson PJ, Kolias AG, Timofeev IS, Corteen E, Czosnyka M, Timothy J, Anderson I, Bulters DO, Belli A, Eynon CA, Wadley J, Mendelow AD, Mitchell PM, Wilson MH, Critchley G, Sahuquillo J, Unterberg A, Servadei F, Teasdale GM, Pickard JD, Menon DK, Murray GD, Kirkpatrick PJ

22 September 2016

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Publication: J Cereb Blood Flow Metab

Helmy A, Guilfoyle MR, Carpenter KL, Pickard JD, Menon DK, Hutchinson PJ

1 December 2015

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Publication: Neurology

Giovannoni G, Cohen JA, Coles AJ, Hartung HP, Havrdova E, Selmaj KW, Margolin DH, Lake SL, Kaup SM, Panzara MA, Compston DA; CARE-MS II Investigators

8 November 2016

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Publication: Ann Surg

Fountain DM, Kolias AG, Lecky FE, Bouamra O, Lawrence T, Adams H, Bond SJ, Hutchinson PJ.

March 2017

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Publication: Nature Cell Biology

Vasileios I. Floros, Angela Pyle, Sabine Dietmann, Wei Wei, Walfred W. C. Tang, Naoko Irie, Brendan Payne, Antonio Capalbo, Laila Noli, Jonathan Coxhead, Gavin Hudson, Moira Crosier, Henrik Strahl, Yacoub Khalaf, Mitinori Saitou, Dusko Ilic, M. Azim Surani & Patrick F. Chinnery

15 January 2018


Summary:

Researchers have shown for the first time how children can inherit a severe – potentially fatal – mitochondrial disease from a healthy mother. The study reveals that healthy people harbour mutations in their mitochondrial DNA and explains how cases of severe mitochondrial disease can appear unexpectedly in previously unaffected families.

Mitochondrial diseases caused by mutations in mitochondrial DNA are rare, affecting approximately 1 in 10,000 births, but can cause severe conditions. Mitochondria are the powerhouses inside our cells, producing energy and carrying their own DNA instructions (separate from the DNA in the nucleus of every cell) and are inherited from a person’s mother via the egg.

In this study, the researchers found that a variety of mutations were present in the mitochondrial DNA in the developing egg cells of all 12 of the human embryos studied, showing that low levels of mitochondrial DNA mutations are carried by healthy humans.

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Publication: Sci Transl Med

Dendrou CA, Cortes A, Shipman L, Evans HG, Attfield KE, Jostins L, Barber T, Kaur G, Kuttikkatte SB, Leach OA, Desel C, Faergeman SL, Cheeseman J, Neville MJ, Sawcer S, Compston A, Johnson AR, Everett C, Bell JI, Karpe F, Ultsch M, Eigenbrot C, McVean G, Fugger L.

2 November 2016

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Publication: Lancet Neurol

CADISS trial investigators, Markus HS, Hayter E, Levi C, Feldman A, Venables G, Norris J.

12 February 2015

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Publication: Neurology

Arnold DL, Fisher E, Brinar VV, Cohen JA, Coles AJ, Giovannoni G, Hartung HP, Havrdova E, Selmaj KW, Stojanovic M, Weiner HL, Lake SL, Margolin DH, Thomas DR, Panzara MA, Compston DA; CARE-MS I and CARE-MS II Investigators

4 October 2016

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Publication: Journal of Neurology

Azzopardi L, Cox AL, McCarthy CL, Jones JL, Coles AJ

17 October 2015

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