Journal Article

DZNE-2024-00926

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration.

Ferreira, M. (First author)DZNE* ; Schaprian, T.DZNE* ; Kügler, D.DZNE* ; Reuter, M.DZNE* ; Deike-Hoffmann, K. ; Timmann, D. ; Ernst, T. M. ; Giunti, P. ; Garcia-Moreno, H. ; van de Warrenburg, B. ; van Gaalen, J. ; de Vries, J. ; Jacobi, H. ; Steiner, K. M. ; Öz, G. ; Joers, J. M. ; Onyike, C. ; Povazan, M. ; Reetz, K. ; Romanzetti, S. ; Klockgether, T.DZNE* ; Faber, J. (Last author)DZNE*

2024
Springer US New York

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Please use a persistent id in citations: doi:10.1007/s12311-024-01659-0

Abstract: Cerebellar atrophy is the neuropathological hallmark of most ataxias. Hence, quantifying the volume of the cerebellar grey and white matter is of great interest. In this study, we aim to identify volume differences in the cerebellum between spinocerebellar ataxia type 1 (SCA1), SCA3 and SCA6 as well as multiple system atrophy of cerebellar type (MSA-C). Our cross-sectional data set comprised mutation carriers of SCA1 (N=12), SCA3 (N=62), SCA6 (N=14), as well as MSA-C patients (N=16). Cerebellar volumes were obtained from T1-weighted magnetic resonance images. To compare the different atrophy patterns, we performed a z-transformation and plotted the intercept of each patient group's model at the mean of 7 years of ataxia duration as well as at the mean ataxia severity of 14 points in the SARA sum score. In addition, we plotted the extrapolation at ataxia duration of 0 years as well as 0 points in the SARA sum score. Patients with MSA-C demonstrated the most pronounced volume loss, particularly in the cerebellar white matter, at the late time intercept. Patients with SCA6 showed a pronounced volume loss in cerebellar grey matter with increasing ataxia severity compared to all other patient groups. MSA-C, SCA1 and SCA3 showed a prominent atrophy of the cerebellar white matter. Our results (i) confirmed SCA6 being considered as a pure cerebellar grey matter disease, (ii) emphasise the involvement of cerebellar white matter in the neuropathology of SCA1, SCA3 and MSA-C, and (iii) reflect the rapid clinical progression in MSA-C.

Keyword(s): Humans (MeSH) ; Male (MeSH) ; Female (MeSH) ; Cerebellum: pathology (MeSH) ; Cerebellum: diagnostic imaging (MeSH) ; Middle Aged (MeSH) ; Adult (MeSH) ; Magnetic Resonance Imaging (MeSH) ; Cross-Sectional Studies (MeSH) ; Aged (MeSH) ; Severity of Illness Index (MeSH) ; Spinocerebellar Ataxias: diagnostic imaging (MeSH) ; Spinocerebellar Ataxias: pathology (MeSH) ; Spinocerebellar Ataxias: genetics (MeSH) ; Atrophy: pathology (MeSH) ; White Matter: diagnostic imaging (MeSH) ; White Matter: pathology (MeSH) ; Organ Size (MeSH) ; Gray Matter: diagnostic imaging (MeSH) ; Gray Matter: pathology (MeSH) ; Ataxia ; Atrophy ; Cerebellum ; z-scores

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Contributing Institute(s):

1. Clinical Research (Bonn) (AG Klockgether ; Clinical Research (Bonn))
2. Clinical Research Platform (CRP) (AG Spottke)
3. Artificial Intelligence in Medicine (AG Reuter)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)
2. 354 - Disease Prevention and Healthy Aging (POF4-354) (POF4-354)

Appears in the scientific report 2024

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Database coverage:
; ; ; Clarivate Analytics Master Journal List ; DEAL Springer ; Ebsco Academic Search ; Essential Science Indicators ; IF < 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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Linked articles:

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article (Erratum/Correction) Ferreira, M. (First author)DZNE* ; Schaprian, T.DZNE* ; Kügler, D.DZNE* ; Reuter, M.DZNE* ; Deike-Hoffmann, K. ; Timmann, D. ; Ernst, T. M. ; Giunti, P. ; Garcia-Moreno, H. ; van de Warrenburg, B. ; van Gaalen, J. ; de Vries, J. ; Jacobi, H. ; Steiner, K. M. ; Öz, G. ; Joers, J. M. ; Onyike, C. ; Povazan, M. ; Reetz, K. ; Romanzetti, S. ; Klockgether, T.DZNE* ; Faber, J. (Last author)DZNE*
Correction: Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration
The cerebellum 23(4), 1530 - 1531 (2024) [10.1007/s12311-024-01681-2]2024   Files  Fulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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