Research at the Queen Square Brain Bank (QSBB) aims to improve our understanding of disease mechanisms in the neurodegenerative diseases utilizing the extensive tissue collection of the QSBB. This type of research often employs a multi-disciplinary collaborative approach with contributions from neuropathologists, geneticists, biochemists and neurologists.
I am currently active in research into multiple system atrophy (MSA) which is grouped with Parkinson’s disease (PD) as one of the alpha-synucleinopathies. This project aims to understand the mechanisms underlying the accumulation of alpha-synuclein in oligodendrocytes in this disease. We have described a novel mutation in the gene encoding alpha-synuclein which gives rise to a familial early onset parkinsonian disorder. Neuropathological examination of the brain from one family member revealed a unique alpha-synucleinopathy with some features of both PD and MSA. Further study of this case and other alpha-synuclein mutations is under way as this may help to elucidate the disease mechanisms of both MSA and PD.
My interest in muscle disease is in the area of inflammatory myopathies with projects in juvenile dermatomyositis and inclusion body myositis (IBM). Of these, IBM shares with many neurodegenerative diseases, the feature of accumulation of fibrillar proteins.