Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry

Nave, Riccardo Della; Ginestroni, Andrea; Tessa, Carlo; Salvatore, Elena; Bartolomei, Ilaria; Salvi, Fabrizio; Dotti, Maria Teresa; Michele, Giuseppe De; Piacentini, Silvia; Mascalchi, Mario

doi:10.1016/j.neuroimage.2007.11.050

Cited by 92 publications

(77 citation statements)

References 27 publications

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“…Our results confirm previous neuropathological5 and imaging data24, 25 in manifest SCA2 mutation carriers and can be regarded as highly valuable in preclinical SCA2 mutation carriers, as data are extremely limited. Previous manual measurements in preclinical SCA2 mutation carriers revealed light cerebellar atrophy in 62.5% and pontine atrophy in 29.2% of cases 15.…”

Section: Discussionsupporting

confidence: 87%

Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2

Reetz

Rodríguez‐Labrada²,

Dogan

et al. 2018

Ann Clin Transl Neurol

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ObjectiveSpinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease mainly affecting the cerebellum and brainstem. In this Cuban‐German research collaboration, we aimed to characterize atrophy patterns and associations with clinical measures in preclinical and manifest SCA2.MethodsIn this study, 16 nonmanifest SCA2 mutation carriers, 26 manifest patients with SCA2, and 18 healthy control subjects underwent magnetic resonance imaging, as well as genetic and clinical characterization including assessment of ataxia (Scale for the Assessment and Rating of Ataxia) and saccade velocity in Cuba were enrolled. Semiautomated quantitative volumetry of the cerebellum and brainstem, subdivided into the medulla oblongata, the pontine brainstem, and mesencephalon was performed. Additionally, the anteroposterior diameter of the pontine brainstem was measured.ResultsAnalysis of volumetric data revealed degeneration of the cerebellum and brainstem, in particular of pontine volumes and the anteroposterior diameter of the pons, in both manifest SCA2 patients and individuals at risk for SCA2 compared to controls. Comparing patients with nonataxic preclinical SCA2 mutation carriers, we found more pronounced reductions of the pontine brainstem and cerebellum in manifest SCA2. Volumetric data further showed associations with CAG repeat length and predicted age of onset in preclinical SCA2 individuals, and by trend with ataxia signs in patients. Although saccade velocity was associated with reduction in the pontine brainstem in preclinical and manifest SCA2, reduced ability to suppress interfering stimuli measured by the Stroop task was related to cerebellar volume loss in patients.InterpretationPreclinical SCA2 mutation carriers exhibit brain abnormalities, which could be targeted as surrogate parameters for disease progression and in future preventive trials.

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Section: Discussionsupporting

confidence: 87%

Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2

Reetz

Rodríguez‐Labrada²,

Dogan

et al. 2018

Ann Clin Transl Neurol

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“…25 In our study, a widespread WM abnormality is being documented first in ARSACS, in contrast to more localized involvement of WM in the superior cerebellar peduncles and peridentate area in Friedreich ataxia. 26,27 Iron deposition in the basal ganglia and thalami and lipofuscin-like dens material within the lysosomes of swollen thalamic and cerebellar cortical neurons were suggested to cause T2 hypointensity in the pons and middle cerebellar peduncles. 5,28,29 Our data do not support these suggestions because of lack of paramagnetic susceptibility; T2 signal loss in the thalami or middle cerebellar peduncles; and DTI findings of material storage in swollen neurons, such as reduced mean diffusivity.…”

Section: Discussionmentioning

confidence: 99%

Assessment of Whole-Brain White Matter by DTI in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Oğuz

Haliloğlu²,

Temuçin

et al. 2013

AJNR Am J Neuroradiol

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“…This observation is consistent with the few available combined VBM and TBSS studies of multiple sclerosis 64 and ataxia. 65,66 However, in the absence of a gold standard reference for the morphometric differences between patients with bipolar disorder and healthy controls, we cannot determine which method is more valid in this clinical context.…”

Section: Grey Matter Versus White Matter Changes In Patients With Bipmentioning

confidence: 99%

Combined analysis of grey matter voxel-based morphometry and white matter tract-based spatial statistics in late-life bipolar disorder

Haller

Xekardaki

Delaloye

et al. 2011

jpn

109

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Previous magnetic resonance imaging (MRI) studies in young patients with bipolar disorder indicated the presence of grey matter concentration changes as well as microstructural alterations in white matter in various neocortical areas and the corpus callosum. Whether these structural changes are also present in elderly patients with bipolar disorder with long-lasting clinical evolution remains unclear

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Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry

Cited by 92 publications

References 27 publications

Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2

Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2

Assessment of Whole-Brain White Matter by DTI in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Combined analysis of grey matter voxel-based morphometry and white matter tract-based spatial statistics in late-life bipolar disorder

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