Visual dysfunction as a biomarker of Frontotemporal Dementia and Motor Neurone Disease

Frontotemporal Dementia (FTD) and Motor Neurone Disease (MND) are devastating, incurable neurodegenerative disorders.  

A mutation in the C9Orf72 gene is the most common genetic cause of both disorders. Recently, the first animal (fruit fly) models of C9Orf72-related FTD-MND that display disease associated pathological hallmarks comparable to those observed in human patients have been created.  

Preliminary observations demonstrate these flies exhibit neurodegeneration within their visual system. Visual disturbances have been reported in FTD-MND patients but remain significantly understudied.  

This project brings together researchers with distinct areas of expertise including MND-FTD (Sheffield), Vision (York) and Brain Imaging (Leeds) in order to test the hypothesis that visual disturbances occur early in disease progression, representing a potential biomarker of disease. Identification of such biomarkers is essential to improve early diagnosis and treatment of neurodegenerative disorders, as well as to unravel the mechanisms underpinning neurodegeneration. This project has 2 primary objectives: 

  1. Establish whether visual disturbances occur early in neurodegenerative cascades in FTD-MND flies 
  2. Establish whether combining non-invasive brain imaging with visual assays can support translation of these assays from fly to human.   

Lead academics at lead institution:  
Dr Ryan West – Department of Neuroscience, Sheffield 

Other academics at other institutions:  
Dr Chris Elliott – Department of Biology, York 
Dr Melanie Burke – School of Psychology, Leeds 

Other staff associated with this project:  
Dr Matt Livesey – Department of Neuroscience Sheffield 
Professor Alex Wade – Department of Psychology, York 
Dr Jean-Francois Delvenne – School of Psychology, Leeds 

Find out more about the White Rose University Consortium, the White Rose Collaboration Fund and how to apply for funding




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