Progression of brain atrophy in spinocerebellar ataxia type 2: a longitudinal tensor-based morphometry study - PubMed (original) (raw)

. 2014 Feb 25;9(2):e89410.

doi: 10.1371/journal.pone.0089410. eCollection 2014.

Stefano Diciotti [ 2](#full-view-affiliation-2 ""Mario Serio" Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy ; Department of Electrical, Electronic, and Information Engineering "Guglielmo Marconi", University of Bologna, Cesena, Italy."), Marco Giannelli [ 3](#full-view-affiliation-3 "Unit of Medical Physics, Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana", Pisa, Italy."), Andrea Ginestroni 4, Andrea Soricelli 5, Emanuele Nicolai 6, Marco Aiello 6, Carlo Tessa 7, Lucia Galli 8, Maria Teresa Dotti 9, Silvia Piacentini 10, Elena Salvatore 11, Nicola Toschi [ 12](#full-view-affiliation-12 "Medical Physics Section, Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy ; Department of Radiology, Athinoula A. Martinos Center for Biomedical Imaging, Boston, Massachusetts, United States of America ; Harvard Medical School, Boston, Massachusetts, United States of America.")

Affiliations

Progression of brain atrophy in spinocerebellar ataxia type 2: a longitudinal tensor-based morphometry study

Mario Mascalchi et al. PLoS One. 2014.

Abstract

Spinocerebellar ataxia type 2 (SCA2) is the second most frequent autosomal dominant inherited ataxia worldwide. We investigated the capability of magnetic resonance imaging (MRI) to track in vivo progression of brain atrophy in SCA2 by examining twice 10 SCA2 patients (mean interval 3.6 years) and 16 age- and gender-matched healthy controls (mean interval 3.3 years) on the same 1.5 T MRI scanner. We used T1-weighted images and tensor-based morphometry (TBM) to investigate volume changes and the Inherited Ataxia Clinical Rating Scale to assess the clinical deficit. With respect to controls, SCA2 patients showed significant higher atrophy rates in the midbrain, including substantia nigra, basis pontis, middle cerebellar peduncles and posterior medulla corresponding to the gracilis and cuneatus tracts and nuclei, cerebellar white matter (WM) and cortical gray matter (GM) in the inferior portions of the cerebellar hemisphers. No differences in WM or GM volume loss were observed in the supratentorial compartment. TBM findings did not correlate with modifications of the neurological deficit. In conclusion, MRI volumetry using TBM is capable of demonstrating the progression of pontocerebellar atrophy in SCA2, supporting a possible role of MRI as biomarker in future trials.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1

Figure 1. Results of the baseline between group (SCA2 vs. controls) TBM analysis.

Voxel-wise corrected p-value maps (threshold-free cluster enhancement, TFCE), testing the null hypothesis of zero differences in |J| baseline between SCA2 patients and healthy controls. Highlighted clusters indicate significantly (p<0.05) more pronounced mean atrophy in SCA2 patients when compared to healthy controls (i.e. |J| baseline in SCA2 patients significantly lower than |J| baseline in healthy controls). All maps are overlayed on population-specific T1 template. These maps show significant symmetric atrophic changes in SCA2 patients (with respect to controls) in the brainstem, middle cerebellar peduncels, and cerebellar WM and adjacent cortical GM. No significant differences are observed in the supratentorial compartment.

Figure 2

Figure 2. Results of longitudinal between group (SCA2 vs. controls) TBM analysis.

Left pane: Sample axial views of the difference in average longitudinal warp rate (ΔWR) maps between SCA2 patients and healthy controls, where red indicates local atrophy and blue indicates local enlargement. Right pane: Voxel-wise corrected p-value maps (threshold-free cluster enhancement, TFCE), testing the null hypothesis of zero differences in WR between SCA2 patients and healthy controls. Highlighted clusters indicate significantly (p<0.05) more pronounced mean atrophy in SCA2 patients when compared to healthy controls (i.e. WR in SCA2 patients significantly lower than WR in control subjects). All maps are overlayed on the population-specific T1 template. SCA2 patients exhibit significant volume loss (higher atrophy rates with respect to controls) in the midbrain (substantia nigra and medial lemniscus, bilaterally, right lateral lemniscus and central region corresponding to decussation of the superior cerebellar peduncles), the entire basis pontis, the middle cerebellar peduncles and posterior medulla corresponding to the in the gracilis and cuneatus tracts and nuclei. The cerebellum shows loss of WM in the hemispheric and peridentate region and of GM in the cerebellar cortex of the inferior portions of the cerebellar hemisphers.

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