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.
On Thursday I had the pleasure of visiting the Newbury Parkinson’s UK branch, or “Sparkies” as they like to be known. I was able to tell them about the research that I am doing on LRRK2, and am looking forward to hosting a visit to our labs in Reading in the near future.
Last Saturday I took part int eh Alpe d’Huez triathlon, competing with 1200 other triathletes swimming, cycling and running through the Alps. I manage to survive and complete the ascent of the Alpe d’Huez (with its famous 21 hairpin turns) and have returned knackered, and a little lighter on my feet than before! So far over £700 has been donated to Parkinson’s UK on my just giving site (link is https://www.justgiving.com/palalpdheuz/), still time to contribute and it is all in a good cause.