The latest list of publications from the NIHR Cambridge Biomedical Research Centre with a brief summary. 

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Publication: JAMA Neurology

Edwin Jabbari, Negin Holland, Viorica Chelban, P. Simon Jones, Ruth Lamb, Charlotte Rawlinson, Tong Guo, Alyssa A. Costantini, Manuela M. X. Tan, Amanda J. Heslegrave, Federico Roncaroli, Johannes C. Klein, Olaf Ansorge, Kieren S. J. Allinson, Zane Jaunmuktane, Janice L. Holton, Tamas Revesz, Thomas T. Warner, Andrew J. Lees, Henrik Zetterberg, Lucy L. Russell, Martina Bocchetta, Jonathan D. Rohrer, Nigel M. Williams, Donald G. Grosset, David J. Burn, Nicola Pavese, Alexander Gerhard, Christopher Kobylecki, P. Nigel Leigh, Alistair Church, Michele T. M. Hu, John Woodside, Henry Houlden,  James B. Rowe, Huw R. Morris

20 December 2019

This research looked at the distinguishing features of progressive supranuclear palsy and corticobasal syndrome subtypes and how they can be distinguished from Parkinson disease.

In this cohort study of 222 patients with atypical parkinsonian syndromes, recently defined progressive supranuclear palsy subtypes are almost as common as classic Richardson syndrome and share midbrain atrophy as a common hallmark. Distinct patterns of clinical trajectory, cognitive profile, serum neurofilament light chain level, genetic, and volumetric magnetic resonance imaging measures helped to distinguish the clinical subtypes of progressive supranuclear palsy and corticobasal syndrome; clinical trajectory and serum neurofilament light chain levels distinguished Parkinson disease from progressive supranuclear palsy and corticobasal syndrome

This study suggests that subtypes of progressive supranuclear palsy and corticobasal syndrome have distinct characteristics that may enhance their early diagnosis.

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Publication: Alzheimer's & Dementia Diagnosis, Assessment & Disease Monitoring

Thilo van Eimeren, Angelo Antonini, Daniela Berg, Nico Bohnen, Roberto Ceravolo, Alexander Drzezga, Günter U. Höglinger, Makoto Higuchi, Stephane Lehericy, Simon Lewis, Oury Monchi, Peter Nestor, Matej Ondrus, Nicola Pavese, María Cecilia Peralta, Paola Piccini, José Ángel Pineda‐Pardo, Irena Rektorová, María Rodríguez‐Oroz, Axel Rominger, Klaus Seppi, A. Jon Stoessl, Alessandro Tessitore, Stephane Thobois, Valtteri Kaasinen, Gregor Wenning, Hartwig R. Siebner, Antonio P. Strafella, James B. Rowe

2 April 2019

Therapeutic strategies targeting protein aggregations are ready for clinical trials in atypical parkinsonian disorders. Therefore, there is an urgent need for neuroimaging biomarkers to help with the early detection of neurodegenerative processes, the early differentiation of the underlying pathology, and the objective assessment of disease progression. However, there currently is not yet a consensus in the field on how to describe utility of biomarkers for clinical trials in atypical parkinsonian disorders.

As a consensus outcome, the researchers described the main challenges in ascribing utility of neuroimaging biomarkers in atypical parkinsonian disorders, and proposed a conceptual framework that includes a graded system for the description of utility of a specific neuroimaging measure. They included separate categories for the ability to accurately identify an intention‐to‐treat patient population early in the disease (Early), to accurately detect a specific underlying pathology (Specific), and the ability to monitor disease progression (Progression).

The researchers suggest that the advancement of standardized neuroimaging in the field of atypical parkinsonian disorders will be furthered by a well‐defined reference frame for the utility of biomarkers. The proposed utility system allows a detailed and graded description of the respective strengths of neuroimaging biomarkers in the currently most relevant areas of application in clinical trials.

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Publication: Nature Medicine

Sarah Killcoyne, Eleanor Gregson, David C. Wedge, Dan J. Woodcock, Matthew D. Eldridge, Rachel de la Rue,  Ahmad Miremadi, Sujath Abbas, Adrienn Blasko, Cassandra Kosmidou, Wladyslaw Januszewicz, Aikaterini Varanou Jenkins, Moritz Gerstung & Rebecca C. Fitzgerald 

07 September 2020


Barrett’s oesophagus is a risk factor for oesophageal cancer. The oesophagus or known as the gullet or food pipe, connects from your mouth to the stomach. Cells within the oesophagus can change and become abnormal. Biopsies taken via an endoscopy can help detect any abnormal cells.

Oesophageal cancer can be hard to detect, Cambridge researchers investigated whether patients could be identified earlier. Using DNA tissue biopsies from patients diagnosed with Barrett’s oesophagus could show which patients are more likely to develop the disease.

Using whole genome sequencing, researchers analysed samples from 88 patients and compared their DNA against control samples collected during clinical surveillance for Barrett’s oesophagus. Researchers looked at the differences in the DNA between patients who were eventually diagnosed with cancer to those who were not. They found several changes and used this model to predict whether a patient was at a high or low risk of cancer.

They found the model could correctly predict oesophageal cancer eight years before diagnosis for half of all patients who went on to develop the disease. This increased to more than three-quarters of patients one to two years before a diagnosis. Read the full story.

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Publication: Brain, Behavior, and Immunity

Emanuele F.Osimo, Benjamin I.Perry, Rudolf N.Cardinal, Mary-EllenLynall, Jonathan Lewis, Arti Kudchadkar, Graham K.Murray, Jesus Perez, Peter B. Jones, Golam M.Khandaker

09 October 2020


A study with early intervention mental health service found that sixty percent of people cared for in their first episode of psychosis recovered well.

The research team used a research database to review blood markers and health outcomes for service users, in a longitudinal study of anonymous patient records between January 2013 and November 2019.

Researchers found that around sixty percent of people with first episode psychosis recovered well enough to be discharged to their GP. Several blood markers were consistently higher or lower in other people who required long term specialist psychiatric care. Read the full press story.

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Publication: Movement Disorders

Fraser S. Brown, James B. Rowe, Luca Passamonti, Timothy Rittman

6 December 2019

Despite falls being an almost universal clinical feature and central to the presentation and diagnostic criteria of progressive supranuclear palsy, our understanding of falls is surprisingly limited and there are few effective treatment options.

The researchers reviewed current understanding of the pathophysiology of falls, highlighting the roles of the indirect pathway and the pedunculopontine nucleus. They then identified shortcomings in commonly used assessments to measure falls, looked at medical and nonmedical fall prevention strategies, and finally discussed balancing falls risk against promoting independence.

Falls are central to progressive supranuclear palsy presentation and diagnosis. Indirect locomotor and pedunculopontine nucleus dysfunction are thought to be the neural substrate of falls in this condition. Attempts to measure and prevent falls, by medical and nonmedical means, are currently limited. A personalized approach is advocated in the management of falls.

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Publication: Nature Communications

Varun Warrier, David M. Greenberg, Elizabeth Weir  Clara Buckingham, Paula Smith, Meng-Chuan Lai,  Carrie Allison, Simon Baron-Cohen

7 August 2020


Transgender and gender-diverse individuals are more likely to be autistic and report higher autistic traits

Researchers reviewed over 600,000 people and used five datasets where participants provided information such as gender identity and if they received a diagnosis of autism or other psychiatric conditions such as depression or schizophrenia. Participants also completed a measure of autistic traits.

Researchers found that transgender and gender-diverse adult individuals were between three and six times more likely to indicate that they were diagnosed as autistic compared to cisgender individuals. The study used data from adults who said they had received an autism diagnosis, however, it is likely there are more individuals on the autistic spectrum who are undiagnosed.

This research will help improve access to mental health care and support for transgender and gender-diverse individuals. Read the full news story.

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Publication: The Lancet Neurology

Katrina M Moore, Jennifer Nicholas, Prof Murray Grossman, Corey T McMillan, David J Irwin, Lauren Massimo, PhD et al

3 December 2019

Frontotemporal dementia is a heterogenous neurodegenerative disorder, with about a third of cases being genetic. Most of this genetic component is accounted for by mutations in GRN, MAPT, and C9orf72. In this study, the researchers aimed to complement previous phenotypic studies by doing an international study of age at symptom onset, age at death, and disease duration in individuals with mutations in GRN, MAPT, and C9orf72.

The study showed that age at symptom onset and at death of people with genetic frontotemporal dementia is influenced by genetic group and, particularly for MAPT mutations, by the specific mutation carried and by family membership.

Although estimation of age at onset will be an important factor in future pre-symptomatic therapeutic trials for all three genetic groups, this study suggests that data from other members of the family will be particularly helpful only for individuals with MAPT mutations. Further work in identifying both genetic and environmental factors that modify phenotype in all groups will be important to improve such estimates.

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Publication: Neurology

Claire J. Lansdall, Ian T.S. Coyle-Gilchrist, Patricia Vázquez Rodríguez, Alicia Wilcox, Eileen Wehmann, Trevor W. Robbins, James B. Rowe

12 April 2019

This research determined the influence of apathy, impulsivity, and behavioral change on survival in patients with frontotemporal dementia, progressive supranuclear palsy, and corticobasal syndrome.

The relationship between apathy and survival highlights the need to develop more effective and targeted measurement tools to improve its recognition and facilitate treatment. The prognostic importance of apathy suggests that neurobehavioral features might be useful to predict survival and stratify patients for interventional trials.

Effective symptomatic interventions targeting the neurobiology of apathy might ultimately also improve prognosis.


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Publication: The Lancet: Diabetes and Endocrinology

Prof Karine Clément, MD, Prof Erica van den Akker, MD, Prof Jesús Argente, MD, Allison Bahm, MD, Prof Wendy K Chung, MD, Hillori Connors, MS, Kathleen De Waele, MD, Prof I Sadaf Farooqi, PhD, Julie Gonneau-Lejeune, MD, Gregory Gordon, MD, Katja Kohlsdorf, MD, Prof Christine Poitou, MD, Lia Puder, MD, James Swain, MD, Murray Stewart, DM, Guojun Yuan, PhD, Prof Martin Wabitsch, MD, Prof Peter Kühnen, MD

30 October 2020


In this international phase 3 study, researchers wanted to see if the drug Setmelanotide could help people whose severe obesity is caused by pro-opiomelanocortin (POMC) or leptin (LEPR) deficiency.

Melanocortin 4 Receptor (MC4R), plays a critical part in bodyweight regulation and Setmelanotide is an MC4R agonist. This trial was conducted in several countries with participants with severe obesity due to either POMC deficiency LEPR deficiency.

After approximately 1 year, eight (80%) participants in the POMC trial and five (45%) participants in the LEPR trial achieved at least 10% weight loss. Researchers found Setmelanotide to be a safe and effective treatment for people with POMC or LEPR deficiency.

This research could benefit people who find it hard to lose weight. There are ongoing trials to test whether Setmelanotide is effective in other genetic obesity syndromes.

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Publication: Annals of Clinical and Translational Neurology

Nicolas Nicastro, Ajenthan Surendranathan, Elijah Mak, James B. Rowe, John T. O’Brien

10 September 2019

There is evidence of increased microglial activation in Parkinson’s disease (PD) as shown by in vivo PET ligand such as 11C‐PK11195. In addition, diffusion tensor imaging (DTI) imaging reveals widespread changes in PD, especially when the associated dementia develops.

The researchers studied five subjects with Parkinson’s disease dementia (PDD). Their findings suggest that while DTI metrics mirror cognitive severity, higher 11C‐PK11195 binding seems to be associated with a relative preservation of both white matter tracts and cognition.

Longitudinal studies are warranted to tackle the complex relationship between microglial activation and structural abnormalities in neurodegenerative conditions.

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Publication: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring

Audrey Low, Elijah Mak, Maura Malpetti, Leonidas Chouliaras, Nicolas Nicastro, Li Sua, Negin Holland, Timothy Rittman, Patricia Vázquez Rodríguez, Luca Passamonti, W Richard Bevan-Jones, PP Simon Jones, James B.Rowe, John T.O’Brien

1 December 2019

Widespread cortical asymmetries have been identified in Alzheimer’s disease (AD), but thalamic asymmetries and their relevance to clinical severity in AD remain unclear.

This research discovered that although overall asymmetry of the thalamus did not differ between groups, greater leftward lateralization of atrophy in the ventral nuclei was demonstrated in AD, compared with controls and amyloid-positive mild cognitive impairment. Increased posterior ventrolateral and ventromedial nuclei asymmetry were associated with worse cognitive dysfunction, informant-reported neuropsychiatric symptoms, and functional ability.

Leftward ventral thalamic atrophy was associated with disease severity in AD. The findings suggest the clinically relevant involvement of thalamic nuclei in the pathophysiology of AD.

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Publication: Diagnostics

Jeremy M. Brown, Julie Wiggins, Kate Dawson, Timothy Rittman, James B. Rowe

12 August 2019

This research paper summarises the current status of two novel short cognitive tests (SCT), known as Test Your Memory (TYM) and Test Your Memory for Mild Cognitive Impairment (TYM-MCI). The history of and recent research on the TYM and TYM-MCI are summarised in applications for Alzheimer’s and non-Alzheimer’s dementia and mild cognitive impairment.

In this NIHR Cambridge-BRC funded research, the researchers found out that the TYM test can be used in a general neurology clinic and can help distinguish patients with Alzheimer’s disease (AD) from those with no neurological cause for their memory complaints. An adapted tele-TYM test administered by telephone to patients produces scores which correlate strongly with the clinic-administered Addenbrooke’s Cognitive Examination revised (ACE-R) test and can identify patients with dementia.

This is important because the team showed that patients with AD decline on the TYM test at a rate of 3.6–4.1 points/year.

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