I am an adult neurology specialist trainee (part time) and holds a NIHR funded clinical lectureship in Neurology. I have been working with the clinical service for the NHS Highly Specialised Service for Rare Mitochondrial Disorders since August 2013.
I completed my PhD study on evaluating the clinical phenotypes associated with mitochondrial disease by utilising data derived from the UK Mitochondrial Disease Patient Cohort in 2017.
Investigating cerebellar ataxia and neurodegeneration in mitochondrial diseases.
Understanding the natural history of mitochondrial stroke-like episodes.
I am the chief investigator for the Mito Ataxia Study. I am the sub investigator for the UK Mitochondrial Disease Patient Cohort and several drug studies.
The most disabling clinical features in patients with mitochondrial disease are those involving the CNS and in particular cerebellar ataxia which affects about two thirds of patients. Despite this most clinical and therapeutic studies in mitochondrial disorders have primarily focused on the analysis of muscle biopsy, serum biomarkers, exercise capacity and muscle strength, with little in-depth evaluation of the functional impairment related to the central nervous system involvement such as cerebellar ataxia. There is a clear unmet need for investigating cerebellar dysfunction in the early stage of neurodegeneration associated with mitochondrial disease in vivo. A better understanding of the cerebellar ataxia may provide a clearer insight into its management, impact on the trajectory of the disease burden in the clinical practice, and provide an avenue for therapeutic interventions in the future.
My current project aims to characterise the severity of cerebellar dysfunction in adult patients with mitochondrial disease and to evaluate the progression of cerebellar ataxia. To achieve this I will 1) assess the severity of cerebellar ataxia in mitochondrial disorders clinically; 2) to investigate how cerebellar ataxia affects postural control and gait by using instrumented gait analysis; 3) to examine the consequences of mitochondrial dysfunction on the integrity of corticospinal tract, cortical excitability and cerebellar brain inhibition with transcranial magnetic stimulation (TMS); 4) to evaluate the responsiveness to change of clinical rating scales, gait parameters and TMS findings in 12-month follow up.
Sponsor/funder: NIHR, Academy of Medical Sciences – Starter Grant for Clinical Lecturers