Claire Shepard

It's absolutely critical for medical research into many areas and the Sydney Brain Bank focuses on ageing and neurodegeneration and the reason it's so important is because we need to look at the tissue where these diseases occur to understand what's going wrong in the brains of individuals that develop dementia or movement disorders in the hope that we can prevent it or treat it.

Absolutely.

I mean, we've known for a long time that clinical diagnoses, when they rely on symptom presentation, especially early stages of some of these diseases, are not always reliable.

And so it's only when we look at the brain tissue post-mortem

that we get a definitive diagnosis.

And that has really important implications for how the patient is treated, how they manage the disease, what to expect, and also for any clinical trials that we may be carrying out.

Well, we focus largely on movement disorders and Parkinson's disease and what we call Parkinson's plus syndromes.

So disorders that have problems with their movement and the umbrella term is Parkinsonism.

So we looked at over 3,000 individuals and we compared their clinical diagnosis in life and said, how does that match the gold standard diagnosis that's been given from looking at the tissue?

Yeah.

So obviously the most common one is Parkinson's disease, but those other disorders that we're talking about are multiple system atrophy, progressive supranuclear palsy and corticobasal syndrome.

So we found that really misdiagnosis is occurring in probably about 10 to 20% of individuals with movement disorders.

And so we find individuals that have Parkinson's disease clinically, but then end up having multiple system atrophy at post-mortem and vice versa.

Yes, it did.

We found that Lewy body disease was more common in individuals with European ancestry and Ashkenazi Jews, whereas the rarer disorders like progressive supranuclear palsy in this study we saw more commonly in South Asian populations.

But I think we also must remember that

some of these groups are a bit smaller than we'd like to study ancestry and that there might be biases in the way some of this brain tissue is collected in some populations, you know, if certain countries target collections.

of these individuals, but it's certainly an interesting finding and one that's been reported previously.

Yeah, we still have some work to do there, especially if we want to diagnose the early stages of disease, which is when it can be very difficult to tell these disorders apart.

So we did find that