| Title: |
The Pattern and Stages of Atrophy in Spinocerebellar Ataxia Type 2: Volumetrics from ENIGMA-Ataxia |
| Authors: |
Robertson, Jason W; Adanyeguh, Isaac; Bender, Benjamin; Boesch, Sylvia; Brunetti, Arturo; Cocozza, Sirio; Coutinho, Léo; Deistung, Andreas; Diciotti, Stefano; Dogan, Imis; Durr, Alexandra; Fernandez-Ruiz, Juan; Göricke, Sophia L; Grisoli, Marina; Han, Shuo; Mariotti, Caterina; Marzi, Chiara; Mascalchi, Mario; Mochel, Fanny; Nachbauer, Wolfgang; Nanetti, Lorenzo; Nigri, Anna; Ono, Sergio E; Onyike, Chiadi U; Prince, Jerry L; Reetz, Kathrin; Romanzetti, Sandro; Sacca, Francesco; Synofzik, Matthis; Teive, Hélio A Ghizoni; Thomopoulos, Sophia I; Thompson, Paul M; Timmann, Dagmar; Ying, Sarah H; Harding, Ian H; Hernandez-Castillo, Carlos R |
| Contributors: |
Robertson, Jason W; Adanyeguh, Isaac; Bender, Benjamin; Boesch, Sylvia; Brunetti, Arturo; Cocozza, Sirio; Coutinho, Léo; Deistung, Andrea; Diciotti, Stefano; Dogan, Imi; Durr, Alexandra; Fernandez-Ruiz, Juan; Göricke, Sophia L; Grisoli, Marina; Han, Shuo; Mariotti, Caterina; Marzi, Chiara; Mascalchi, Mario; Mochel, Fanny; Nachbauer, Wolfgang; Nanetti, Lorenzo; Nigri, Anna; Ono, Sergio E; Onyike, Chiadi U; Prince, Jerry L; Reetz, Kathrin; Romanzetti, Sandro; Sacca, Francesco; Synofzik, Matthi; Teive, Hélio A Ghizoni; Thomopoulos, Sophia I; Thompson, Paul M; Timmann, Dagmar; Ying, Sarah H; Harding, Ian H; Hernandez-Castillo, Carlos R |
| Publication Year: |
2025 |
| Collection: |
IRIS Università degli Studi di Napoli Federico II |
| Subject Terms: |
Voxel‐based morphometry; cerebellum; disease staging; magnetic resonance imaging (MRI); spinocerebellar ataxia type 2 |
| Description: |
Background: Spinocerebellar ataxia type 2 (SCA2) is a rare, inherited neurodegenerative disease characterized by progressive deterioration in both motor coordination and cognitive function. Atrophy of the cerebellum, brainstem, and spinal cord are core features of SCA2; however, the evolution and pattern of whole-brain atrophy in SCA2 remain unclear. Objective: We undertook a multisite, structural magnetic resonance imaging (MRI) study to comprehensively characterize the neurodegeneration profile of SCA2. Methods: Voxel-based morphometry analyses of 110 participants with SCA2 and 128 controls were undertaken to assess groupwise differences in whole-brain volume. Correlations with clinical severity and genotype, and cross-sectional profiling of atrophy patterns at different disease stages, were also performed. Results: Atrophy in SCA2 versus controls was greatest (Cohen's d >2.5) in the cerebellar white matter (WM), middle cerebellar peduncle, pons, and corticospinal tract. Very large effects (d >1.5) were also evident in the superior cerebellar, inferior cerebellar, and cerebral peduncles. In the cerebellar gray matter (GM), large effects (d >0.8) were observed in areas related to both motor coordination and cognitive tasks. Strong correlations (|r| > 0.4) between volume and disease severity largely mirrored these groupwise outcomes. Stratification by disease severity exhibited a degeneration pattern beginning in the cerebellar and pontine WM in preclinical subjects; spreading to the cerebellar GM and cerebro-cerebellar/corticospinal WM tracts; and then finally involving the thalamus, striatum, and cortex in severe stages. Conclusion: The magnitude and pattern of brain atrophy evolve over the course of SCA2, with widespread, nonuniform involvement across the brainstem, cerebellar tracts, and cerebellar cortex; and late involvement of the cerebral cortex and striatum. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder ... |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/wos/WOS:001420676800001; volume:40; issue:4; firstpage:651; lastpage:661; numberofpages:11; journal:MOVEMENT DISORDERS; https://hdl.handle.net/11588/1005349 |
| DOI: |
10.1002/mds.30143 |
| Availability: |
https://hdl.handle.net/11588/1005349; https://doi.org/10.1002/mds.30143 |
| Rights: |
info:eu-repo/semantics/openAccess ; license:Creative commons ; license uri:http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.8A83FC74 |
| Database: |
BASE |