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Researchers at Radboudumc have discovered a new way to predict how quickly symptoms will worsen in people with the rare brain disorder spinocerebellar ataxia type 1 (SCA1). Using MRI scans, they found that shrinkage of a specific part of the brainstem, the pons, over just one year can forecast future decline in balance and coordination. The finding could help speed up the development of new treatments by allowing earlier and more accurate tracking of disease progression.
Spinocerebellar ataxia type 1 (SCA1) is a rare, inherited brain disease that affects balance, coordination, speech, and swallowing. It occurs when a small piece of DNA in the ataxin-1 gene is repeated too many times, which gradually damages specific brain regions — especially the cerebellum and brainstem. Over time, this leads to worsening mobility and a shorter life expectancy.
Researchers are currently developing RNA-based therapies, such as antisense oligonucleotides, which could potentially slow or stop the disease. But testing whether these treatments work is difficult: the disease progresses slowly, and traditional clinical assessments may take years to show measurable changes.
In a previous study (1) researchers from Radboud university medical center followed 33 people with SCA1 for two years, collecting brain scans (MRI), clinical data, and blood and spinal fluid samples. They found that shrinkage of a specific brain region, the pons, located in the brainstem, is the most sensitive early indicator of disease progression.
In a recent follow-up study published in Neurobiology of Disease, they now discovered that patients who showed more shrinkage of the pons after one year also experienced a faster decline in balance and walking ability the following year.
These findings suggest that measuring pontine volume on MRI could become a valuable tool for future treatment studies. It may allow scientists to detect meaningful effects of new therapies much earlier, making clinical trials for SCA1 and related brain disorders faster and more efficient.
This research is part of Radboudumc Research Program: Parkinson’s disease and other movement disorders
About the publication
van Prooije, T.H., Kapteijns, K.C.J., van Asten, J.J.A., Int Hout, J., Verbeek, M.M., Scheenen, T.W.J. and van de Warrenburg, B.P. (2024), Multimodal, Longitudinal Profiling of SCA1 Identifies Predictors of Disease Severity and Progression. Ann Neurol, 96: 774-787. https://doi.org/10.1002/ana.27032
Other publication
- van Prooije, T.H., Kapteijns, K.C.J., van Asten, J.J.A., Int Hout, J., Verbeek, M.M., Scheenen, T.W.J. and van de Warrenburg, B.P. (2024), Multimodal, Longitudinal Profiling of SCA1 Identifies Predictors of Disease Severity and Progression. Ann Neurol, 96: 774-787. https://doi.org/10.1002/ana.27032
