Journal Article

DZNE-2021-00756

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3.

Faber, J. (First author)DZNE* ; Schaprian, T.DZNE* ; Berkan, K.DZNE* ; Reetz, K. ; França, M. C. ; de Rezende, T. J. R. ; Hong, J. ; Liao, W. ; van de Warrenburg, B. ; van Gaalen, J. ; Dürr, A.Extern* ; Mochel, F. ; Giunti, P. ; Garcia-Moreno, H. ; Schoels, L. ; Hengel, H.DZNE* ; Synofzik, M.DZNE* ; Bender, B.Extern* ; Oz, G. ; Joers, J. ; de Vries, J. J. ; Kang, J.-S. ; Timmann-Braun, D. ; Jacobi, H.Extern* ; Infante, J. ; Joules, R. ; Romanzetti, S. ; Diedrichsen, J. ; Schmid, M.DZNE* ; Wolz, R. ; Klockgether, T. (Last author)DZNE*

2021
Wiley New York, NY

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Please use a persistent id in citations: doi:10.1002/mds.28610

Abstract: Given that new therapeutic options for spinocerebellar ataxias are on the horizon, there is a need for markers that reflect disease-related alterations, in particular, in the preataxic stage, in which clinical scales are lacking sensitivity.The objective of this study was to quantify regional brain volumes and upper cervical spinal cord areas in spinocerebellar ataxia type 3 in vivo across the entire time course of the disease.We applied a brain segmentation approach that included a lobular subsegmentation of the cerebellum to magnetic resonance images of 210 ataxic and 48 preataxic spinocerebellar ataxia type 3 mutation carriers and 63 healthy controls. In addition, cervical cord cross-sectional areas were determined at 2 levels.The metrics of cervical spinal cord segments C3 and C2, medulla oblongata, pons, and pallidum, and the cerebellar anterior lobe were reduced in preataxic mutation carriers compared with controls. Those of cervical spinal cord segments C2 and C3, medulla oblongata, pons, midbrain, cerebellar lobules crus II and X, cerebellar white matter, and pallidum were reduced in ataxic compared with nonataxic carriers. Of all metrics studied, pontine volume showed the steepest decline across the disease course. It covaried with ataxia severity, CAG repeat length, and age. The multivariate model derived from this analysis explained 46.33% of the variance of pontine volume.Regional brain and spinal cord tissue loss in spinocerebellar ataxia type 3 starts before ataxia onset. Pontine volume appears to be the most promising imaging biomarker candidate for interventional trials that aim at slowing the progression of spinocerebellar ataxia type 3. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Keyword(s): Brain: diagnostic imaging (MeSH) ; Cerebellum (MeSH) ; Humans (MeSH) ; Machado-Joseph Disease (MeSH) ; Spinocerebellar Ataxias: diagnostic imaging (MeSH) ; Spinocerebellar Ataxias: genetics (MeSH) ; MRI ; biomarker ; spinocerebellar ataxia ; volumetry

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Contributing Institute(s):

1. Clinical Research Coordination (AG Klockgether)
2. Parkinson Genetics (AG Gasser 1)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Experiment(s):

1. European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative

Appears in the scientific report 2021

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Database coverage:
; ; ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; DEAL Wiley ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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