Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C

Walterfang, Mark; Abel, Larry A; Desmond, Patricia; Fahey, Michael; Bowman, Elizabeth A.; Velakoulis, Dennis

doi:10.1016/j.ymgme.2012.11.009

Cited by 23 publications

(23 citation statements)

References 41 publications

(50 reference statements)

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“…In our earlier cross-sectional study examining cerebellar grey and white matter volumes, we identified a significant correlation between cerebellar volumes and BARS scores, but not between cerebellar volumes and the Iturriaga scale [6]. In the current study, the progression of cerebellar grey matter volume loss was significantly associated with disease progression as measured by the Iturriaga scale but not with ataxia as measured by the BARS.…”

Section: Discussioncontrasting

confidence: 58%

“…Murine models have found that some cerebellar purkinje populations last longer than others, with those in the cerebellar vermis generally the last to be affected [5]. Cross-sectional MRI investigations in humans with adult-onset NPC have found significant reductions in thalamic, striatal, and hippocampal volumes, and in both cerebellar grey and white matter volumes compared to age and gender-matched controls [6,7].…”

Section: Introductionmentioning

confidence: 99%

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Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann–Pick disease type C patients treated with miglustat

et al. 2015

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Niemann-Pick disease type C (NPC) is a rare neurovisceral disorder resulting in impaired intracellular lipid trafficking. The only disease-modifying treatment available to date is miglustat, an iminosugar inhibiting the accumulation of lipid by-products in neurons. This study explored how changes in cerebellar grey and white matter volumes, and in subcortical volumes, related to patient treatment status and disability and ataxia ratings. Nine adult-onset NPC patients and 17 matched controls underwent T1-weighted MRI. One patient was not receiving miglustat, and pre-treatment data were available for a further patient. Semi-automated cerebellar and subcortical segmentation was undertaken, and the rates of change in putamen, hippocampal, thalamic and caudal volumes, and grey and white matter cerebellar volumes, were compared to rates of change in Iturriaga disability score, Brief Ataxia Rating Scale (BARS), and horizontal saccadic gain. Untreated NPC patients appeared to lose cerebellar grey and white matter, bilateral thalamic volume, and right caudate volume faster than treated patients. Cerebellar grey matter volume loss and volume loss in the left thalamus were significantly correlated with Iturriaga disability scale changes. Change in both cerebellar grey and white matter was correlated with decrease in horizontal saccadic gain, but not with change in BARS. This is the first study to examine longitudinal treatment effects of miglustat on cerebellar and subcortical volumes in patients with adult-onset NPC, and is evidence that miglustat may have a protective effect on cerebellar and subcortical structure and function.

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Section: Discussioncontrasting

confidence: 58%

Section: Introductionmentioning

confidence: 99%

Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann–Pick disease type C patients treated with miglustat

et al. 2015

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“…Moreover, a recent morphometry study [140] indicated that NPC patients shows a significant reduction in both gray and white matter cerebellar volumes and that volume loss is correlated with saccadic gain and ataxia measures, but not with symptom duration or severity. In a proton spectroscopic imaging study of NPC disease, NAA/creatine was significantly decreased in the frontal and parietal cortices, centrum semiovale and caudate nucleus, whereas choline/creatine was significantly increased in the frontal cortex and centrum semiovale [141].…”

Section: Section 8: Structural and Functional Neuroimaging In Autosommentioning

confidence: 99%

Consensus Paper: Radiological Biomarkers of Cerebellar Diseases

et al. 2014

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Hereditary and sporadic cerebellar ataxias represent a vast and still growing group of diseases whose diagnosis and differentiation cannot only rely on clinical evaluation. Brain imaging including magnetic resonance (MR) and nuclear medicine techniques allows for characterization of structural and functional abnormalities underlying symptomatic ataxias. These methods thus constitute a potential source of radiological biomarkers, which could be used to identify these diseases and differentiate subgroups of them, and to assess their severity and their evolution. Such biomarkers mainly comprise qualitative and quantitative data obtained from MR including proton spectroscopy, diffusion imaging, tractography, voxel-based morphometry, functional imaging during task execution or in a resting state, and from SPETC and PET with several radiotracers. In the current article, we aim to illustrate briefly some applications of these neuroimaging tools to evaluation of cerebellar disorders such as inherited cerebellar ataxia, fetal developmental malformations, and immune-mediated cerebellar diseases and of neurodegenerative or early-developing diseases, such as dementia and autism in which cerebellar involvement is an emerging feature. Although these radiological biomarkers appear promising and helpful to better understand ataxia-related anatomical and physiological impairments, to date, very few of them have turned out to be specific for a given ataxia with atrophy of the cerebellar system being the main and the most usual alteration being observed. Consequently, much remains to be done to establish sensitivity, specificity, and reproducibility of available MR and nuclear medicine features as diagnostic, progression and surrogate biomarkers in clinical routine.

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“…Previous studies have shown reduced gray matter in a variety of cerebral regions, including the thalamus and hippocampus, 1 while others have correlated reductions in cerebellum gray matter with clinical severity scores. 2 Measures of white matter may also be useful, though studies using diffusion tensor imaging have provided mixed results, with some noting widespread changes in white matter tracts, 1 while others found localized reductions to specific structures. 3,4 Nevertheless, callosal fractional anisotropy values and callosal volume correlated with clinical severity scores, 4 suggesting that indices of the integrity of white matter tracts could also be an objective gauge of disease status.…”

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confidence: 99%

Reduced Myelin Water in the White Matter Tracts of Patients with Niemann-Pick Disease Type C

Davies‐Thompson

Vavasour

Scheel

et al. 2016

American Journal of Neuroradiology

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SUMMARY: Previous studies using diffusion tensor imaging to examine white matter in Niemann-Pick disease type C have produced mixed results. However, diffusion tensor imaging does not directly measure myelin and may be affected by other structural changes. We used myelin water imaging to more directly examine demyelination in 2 patients with Niemann-Pick disease type C. The results suggest that this technique may be useful for identifying regional changes in myelination in this condition.

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Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C

Cited by 23 publications

References 41 publications

Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann–Pick disease type C patients treated with miglustat

Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann–Pick disease type C patients treated with miglustat

Consensus Paper: Radiological Biomarkers of Cerebellar Diseases

Reduced Myelin Water in the White Matter Tracts of Patients with Niemann-Pick Disease Type C

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