Alpha Synuclein paper in Molecular Neurodegeneration

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Out now in the journal Molecular Neurodegeneration, the neuropathology team at Queen Square have published a comparative study of alpha synuclein pathology in cases with the G51D mutation and duplications in the alpha synuclein gene. Both of these types of mutation cause Parkinson’s disease, but for reasons that aren’t quite clear the former amino acid change seems to cause a more aggressive set of symptoms, with an earlier onset and a greater propensity to develop dementia. In this paper, which I contributed to, Aoife looked a the cellular pathology in the brains of people with these mutations – showing that the G51D mutation carriers have more extreme pathology in their brains. We’re currently working to understand what causes this difference, so hopefully more to follow on this.


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