TY  - JOUR
AU  - Faber, Jennifer
AU  - Schaprian, Tamara
AU  - Berkan, Koyak
AU  - Reetz, Kathrin
AU  - França, Marcondes Cavalcante
AU  - de Rezende, Thiago Junqueira Ribeiro
AU  - Hong, Jiang
AU  - Liao, Weihua
AU  - van de Warrenburg, Bart
AU  - van Gaalen, Judith
AU  - Dürr, Alexandra
AU  - Mochel, Fanny
AU  - Giunti, Paola
AU  - Garcia-Moreno, Hector
AU  - Schoels, Ludger
AU  - Hengel, Holger
AU  - Synofzik, Matthis
AU  - Bender, Benjamin
AU  - Oz, Gulin
AU  - Joers, James
AU  - de Vries, Jereon J
AU  - Kang, Jun-Suk
AU  - Timmann-Braun, Dagmar
AU  - Jacobi, Heike
AU  - Infante, Jon
AU  - Joules, Richard
AU  - Romanzetti, Sandro
AU  - Diedrichsen, Jorn
AU  - Schmid, Matthias
AU  - Wolz, Robin
AU  - Klockgether, Thomas
TI  - Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3.
JO  - Movement disorders
VL  - 36
IS  - 10
SN  - 1531-8257
CY  - New York, NY
PB  - Wiley
M1  - DZNE-2021-00756
SP  - 2273-2281
PY  - 2021
AB  - 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
KW  - Brain: diagnostic imaging
KW  - Cerebellum
KW  - Humans
KW  - Machado-Joseph Disease
KW  - Spinocerebellar Ataxias: diagnostic imaging
KW  - Spinocerebellar Ataxias: genetics
KW  - MRI (Other)
KW  - biomarker (Other)
KW  - spinocerebellar ataxia (Other)
KW  - volumetry (Other)
LB  - PUB:(DE-HGF)16
C2  - pmc:PMC9521507
C6  - pmid:33951232
DO  - DOI:10.1002/mds.28610
UR  - https://pub.dzne.de/record/155578
ER  -