Multiple System Atrophy (MSA)
What is MSA?
Multiple System Atrophy (MSA) is a rapidly progressive, devastating neurological disease that affects 4 adults in 100,000 and is currently incurable. MSA is caused by the death of brain cells from specific areas that have important role in controlling movement and coordination but also breathing, swallowing or blood pressure. This leads to severe disability in sufferers and significant health, social and economic impacts.
The mechanism that causes the death of brain cells in MSA is not known but we know that the accumulation of an abnormal protein called alpha-synuclein on different types of brain cells is the hallmark of MSA.
In our department we study what genes lead to the accumulation of these abnormal proteins and therefore the target-pathways that can be used to find treatment. Firstly, through an established network of UK movement disorders specialists we will characterise a longitudinal clinical series of MSA patients to enable serial early biosample collection developing a research resource and trial -ready cohort as part of the PROSPECT-M study.
We will initially measure the abundance or the lack of genes from different brain parts from patients that died as a result of MSA and compare them with exactly the same regions from healthy controls. We will perform similar experiments using cerebrospinal fluid and blood from MSA patients.
Identifying genetic markers in brain tissue and validating in blood samples will potentially reveal important clues on the cause of MSA and in combination with clinical and imaging analysis can improve our ability to diagnose the disease early, monitor progression and response to treatment. This approach could be used in the future to study similar neurological diseases.
Our Latest Publications on MSA
RFC1-related ataxia is a mimic of early multiple system atrophy
Sullivan et al, 2021
Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease
Shadrin et al, 2021
An update on MSA: premotor and non-motor features open a window of opportunities for early diagnosis and intervention
Chelban et al, 2020
Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson’s disease
Foti et al, 2019