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May Yung Tiet’s Neurological Study

Exploring Cognitive Function in

Ataxia-Telangiectasia

 

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Investigator:                       Supervisors:

Dr May Yung Tiet                                    Dr Anke Hensiek & Dr Rita Horvath

About May

Thank you for taking the time to read about my study “Exploring cognitive function in A-T”. I am a Neurology Registrar studying for my PhD in A-T at University of Cambridge. Neurological symptoms are a disabling aspect in A-T. I aim to study the burden of neurological symptoms in A-T, in order to guide the development of future treatments.

Memory is not just about recalling events, but vital for our day-to-day functioning. Little is known about how exactly the brain and memory is affected in A-T. Most patients with A-T don’t have particular subjective memory problems and some complete University degrees or work at intellectually demanding jobs. However, cognitive function could still be affected to a degree that is not so obvious during daily functioning. It would be important to fully assess this in order to adjust our treatments.

About the Study

During this study, I will assess memory function and existing A-T patient brain MRIs. The memory test will be carried out by me virtually one-to-one, or in person for patients who attend the National Adult A-T clinic in Cambridge. The aim is to clearly understand how A-T affects memory and explore potential MRI biomarkers.

During our meeting, I am happy to discuss other ongoing projects in Cambridge, which has two main arms:

  • Clinical study: to define the neurological symptoms in A-T in order to understand why the symptoms in A-T are so diverse and variable. I will study the characteristics of classic A-T, variant A-T and A-T-like disorders by neurological examination, virtually and face-to-face. The aim is to clearly define the characteristics and progression of A-T for future clinical trials
  • Laboratory study: to collect patient samples including a small skin sample and blood to study mitochondrial function and how this leads to the neurological symptoms in A-T. Mitochondria are the powerhouse of individual cells and there is increasing evidence that mitochondria is involved in A-T. The aim is to find suitable pathways to target drug treatments

Signing up!

Our Cambridge-based team is comprised of international experts in Neurogenetics and brain imaging. We will unify clinical interpretation with laboratory discoveries to fully understand why patients vary neurologically and how memory is impacted. If you would like to participate in my study, please contact me on m.tiet@nhs.net.