Psychiatry - Theses

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    Brain Changes in Adult-Onset Niemann-Pick Type C Disease: Neuroimaging and Other Measures
    Walterfang, Mark Anthony ( 2023-05)
    This thesis explores the relationship between brain changes, largely assessed through neuroimaging measures, and function in Niemann Pick type C disease. After exploring the link between psychosis and adult NPC, I set out to apply research imaging techniques I had developed and experienced during work in schizophrenia neuroimaging research to our growing adult NPC population. By first demonstrating that NPC patients showed widespread white matter as well as grey matter disease, I undertook a suite of studies that showed a significant overlap between adult NPC patients and schizophrenia patients. This group of magnetic resonance imaging-based studies largely corroborated what has been seen in animal and neuropathological studies of NPC, but hitherto had not been demonstrated in group studies in humans. I extended this work using molecular imaging to corroborate other data in neuroinflammation and tauopathy in the disease. By utilizing advanced ocular-motor analysis I further sought to find a biomarker of illness progression and treatment response. By extending this work into patients treated with a disease modifying medication, miglustat, I showed that progressive brain changes could be at least partially reversed with miglustat treatment. Lastly, my ongoing work in this area led to the development of significant expertise across neurometabolic disorders, and – by accident rather than design – allowed me to pioneer the novel psychiatric subspecialty: the psychiatry of inborn metabolic disorders.