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000284029 1001_ $$0P:(DE-2719)9001499$$aBaumeister, Hannah$$b0$$eFirst author$$udzne
000284029 245__ $$aBrain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.
000284029 260__ $$aAmsterdam [u.a.]$$bElsevier$$c2026
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000284029 520__ $$aSpinocerebellar ataxia type 3 (SCA3) is characterised by progressive brain atrophy, with regional volume loss detectable via MRI prior to clinical manifestation. We aimed to identify the previously unknown sequence of brain atrophy in SCA3 and evaluate whether this sequence can be translated into an atrophy staging framework to enable accurate clinical prognosis and trial enrichment.We included data from 322 SCA3 mutation carriers, enrolled in observational studies conducted across Europe, the Americas, and Asia. Participants underwent follow-up assessments up to five years after baseline. The Subtype and Stage Inference machine learning algorithm was applied to estimate the most likely atrophy sequence(s) from baseline anatomical MRI. The Scale for the Assessment and Rating of Ataxia (SARA) was used to capture ataxia severity. Atrophy stages were analysed in relation to SARA and time from disease onset. Interventional trials were simulated to estimate required sample sizes under different atrophy stage eligibility criteria.We identified a uniform sequence of brain atrophy in SCA3, characterised by earliest volumetric decline in the caudal brainstem and substantial involvement of the white matter. Atrophy stage was associated with both SARA and time from disease onset. Atrophy staging outperformed single-region volumetrics in predicting SARA over time. Applying atrophy stage cut-offs substantially reduced the sample sizes needed to adequately power hypothetical clinical trials.These findings yield mechanistic insights into the progression of neurodegeneration in SCA3 and possess immediate translational relevance, facilitating patient stratification and sample enrichment for interventional trials.National Ataxia Foundation (NAF).
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000284029 650_7 $$2Other$$aAtaxia
000284029 650_7 $$2Other$$aDisease progression modelling
000284029 650_7 $$2Other$$aImaging biomarker
000284029 650_7 $$2Other$$aMachine learning
000284029 650_7 $$2Other$$aMovement disorders
000284029 650_2 $$2MeSH$$aHumans
000284029 650_2 $$2MeSH$$aAtrophy
000284029 650_2 $$2MeSH$$aMachado-Joseph Disease: pathology
000284029 650_2 $$2MeSH$$aMachado-Joseph Disease: diagnosis
000284029 650_2 $$2MeSH$$aMachado-Joseph Disease: genetics
000284029 650_2 $$2MeSH$$aMachado-Joseph Disease: diagnostic imaging
000284029 650_2 $$2MeSH$$aPrognosis
000284029 650_2 $$2MeSH$$aMale
000284029 650_2 $$2MeSH$$aMagnetic Resonance Imaging
000284029 650_2 $$2MeSH$$aBrain: pathology
000284029 650_2 $$2MeSH$$aBrain: diagnostic imaging
000284029 650_2 $$2MeSH$$aFemale
000284029 650_2 $$2MeSH$$aMiddle Aged
000284029 650_2 $$2MeSH$$aAdult
000284029 650_2 $$2MeSH$$aDisease Progression
000284029 650_2 $$2MeSH$$aSeverity of Illness Index
000284029 650_2 $$2MeSH$$aAged
000284029 693__ $$0EXP:(DE-2719)DELCODE-20140101$$5EXP:(DE-2719)DELCODE-20140101$$eLongitudinal Cognitive Impairment and Dementia Study$$x0
000284029 693__ $$0EXP:(DE-2719)DANCER-20150101$$5EXP:(DE-2719)DANCER-20150101$$eDegeneration Controls and Relatives$$x1
000284029 693__ $$0EXP:(DE-2719)ESMI-20140101$$5EXP:(DE-2719)ESMI-20140101$$eEuropean Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative$$x2
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000284029 7001_ $$0P:(DE-2719)2811327$$aFaber, Jennifer$$b37$$eLast author$$udzne
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000284029 773__ $$0PERI:(DE-600)2799017-5$$a10.1016/j.ebiom.2025.106090$$gVol. 123, p. 106090 -$$p106090$$tEBioMedicine$$v123$$x2352-3964$$y2026
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