Multiparameter MR Imaging in the<i>6-OPRI</i>Variant of Inherited Prion Disease

Vita, Enrico De; Ridgway, Gerard R.; Scahill, Rachael I.; Caine, Diana; Rudge, Peter; Yousry, Tarek; Mead, Simon; Collinge, John; Jäger, Hans Rolf; Thornton, John S.; Hyare, Harpreet

doi:10.3174/ajnr.a3504

Cited by 8 publications

(22 citation statements)

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“…Quantitative MRI is extremely useful in providing objective data, independent of subjective signal intensity assessments, A number of publications have pioneered quantitative brain MRI in prion diseases, focused in particular upon DW imaging and tissue-volume assessment (Lin et al, 2006, Lee et al, 2009, Cohen et al, 2009 (cerebellar atrophy); Lee et al, 2010, Hyare et al, 2010a, Hyare et al, 2010b, Alner et al, 2012 (cortical thickness); Lee et al, 2012, De Vita et al, 2013 (some VBM atrophy findings); Wang et al, 2013, Caverzasi et al, 2014a, Caverzasi et al, 2014b, Caverzasi et al, 2014a) as well as magnetisation transfer ratio (Siddique et al, 2010) and metabolite concentrations (Galanaud et al, 2010). …”

Section: Introductionmentioning

confidence: 99%

“…Though atrophy is typically not an early finding on conventional MRI in prion diseases, VBM of cross-sectional MRI has been able to reveal sporadic CJD cerebellar atrophy (Cohen et al, 2009) and, with a more sophisticated normalization procedure (DARTEL (Ashburner, 2007)), patterns of atrophy in the 6-OPRI variant of inherited prion disease (De Vita et al, 2013). Voxel based analysis of DW imaging or diffusion tensor imaging (DTI), using a similar approach to VBM have also been reported (Lee et al, 2009, De Vita et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

“…Voxel based analysis of DW imaging or diffusion tensor imaging (DTI), using a similar approach to VBM have also been reported (Lee et al, 2009, De Vita et al, 2013). Tract based spatial statistics (Smith et al, 2006), developed to resolve some of the issues associated with white matter tract co-registration has also been used to assess WM disruption in prion disease using DTI (Lee et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

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Neuroanatomical correlates of prion disease progression - a 3T longitudinal voxel-based morphometry study

Vita

Ridgway

White

et al. 2017

NeuroImage: Clinical

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PurposeMRI has become an essential tool for prion disease diagnosis. However there exist only a few serial MRI studies of prion patients, and these mostly used whole brain summary measures or region of interest based approaches. We present here the first longitudinal voxel-based morphometry (VBM) study in prion disease. The aim of this study was to systematically characterise progressive atrophy in patients with prion disease and identify whether atrophy in specific brain structures correlates with clinical assessment.MethodsTwenty-four prion disease patients with early stage disease (3 sporadic, 2 iatrogenic, 1 variant and 18 inherited CJD) and 25 controls were examined at 3T with a T1-weighted 3D MPRAGE sequence at multiple time-points (2–6 examinations per subject, interval range 0.1–3.2 years). Longitudinal VBM provided intra-subject and inter-subject image alignment, allowing voxel-wise comparison of progressive structural change. Clinical disease progression was assessed using the MRC Prion Disease Rating Scale. Firstly, in patients, we determined the brain regions where grey and white matter volume change between baseline and final examination correlated with the corresponding change in MRC Scale score. Secondly, in the 21/24 patients with interscan interval longer than 3 months, we identified regions where annualised rates of regional volume change in patients were different from rates in age-matched controls. Given the heterogeneity of the cohort, the regions identified reflect the common features of the different prion sub-types studied.ResultsIn the patients there were multiple regions where volume loss significantly correlated with decreased MRC scale, partially overlapping with anatomical regions where yearly rates of volume loss were significantly greater than controls. The key anatomical areas involved included: the basal ganglia and thalamus, pons and medulla, the hippocampal formation and the superior parietal lobules. There were no areas demonstrating volume loss significantly higher in controls than patients or negative correlation between volume and MRC Scale score.ConclusionsUsing 3T MRI and longitudinal VBM we have identified key anatomical regions of progressive volume loss which correlate with an established clinical disease severity index and are relevant to clinical deterioration. Localisation of the regions of progressive brain atrophy correlating most strongly with clinical decline may help to provide more targeted imaging endpoints for future clinical trials.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Neuroanatomical correlates of prion disease progression - a 3T longitudinal voxel-based morphometry study

Vita

Ridgway

White

et al. 2017

NeuroImage: Clinical

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“…3 Although there are substantial similarities among sporadic CJD, variant CJD, and several genetic variants on MR imaging, 3 it is surprising that the 6-OPRI mutation appears to be very different from all other variants. The authors of this work as well as others in the field of prion disease imaging benefitted greatly from the work of our late colleague, Isak Prohovnik, who, before his passing, assisted greatly in critiquing and amending the work of De Vita et al 1 Dr Prohovnik's own research, particularly in establishing an extensive prospective imaging cohort of patients with the E200K mutation, advanced the field of CJD imaging tremendously. In building on the pioneering work of our esteemed colleague, Isak Prohovnik, and applying his multidisciplinary approach combining clinical and imaging resources to the study of 6-OPRI, the authors of this study further advance our understanding of the diversity of prion diseases.…”

Section: 3 Because It Ismentioning

confidence: 99%

“…n the article "Multi-parameter MR Imaging in the 6-OPRI Variant of Inherited Prion Disease," featured in this issue, De Vita et al 1 evaluate a particular mutation of human prion disease, thereby making an essential contribution to our understanding of the clinical and radiologic spectrum of this disorder. The surprising results suggest that the 6-octapeptide repeat insertion (6-OPRI) mutation does not demonstrate the typical imaging findings of some genetic variants of Creutzfeldt-Jakob disease (CJD), such as the E200K variant, which Prohovnik and colleagues established as clinically and radiographically equivalent to sporadic CJD in a study using high-b-value diffusion-weighted imaging and which other authors illustrated with the V210I mutation.…”

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confidence: 99%

Imaging of the6-OPRIMutation Prion Disease: An Entity Distinct from Typical Creutzfeldt-Jakob Disease?

Degnan¹,

Levy²

2013

AJNR Am J Neuroradiol

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Selective vulnerability to atrophy in sporadic Creutzfeldt‐Jakob disease

Younes

Rojas

Wolf

et al. 2021

Ann Clin Transl Neurol

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Objective: Identification of brain regions susceptible to quantifiable atrophy in sporadic Creutzfeldt-Jakob disease (sCJD) should allow for improved understanding of disease pathophysiology and development of structural biomarkers that might be useful in future treatment trials. Although brain atrophy is not usually present by visual assessment of MRIs in sCJD, we assessed whether using voxel-based morphometry (VBM) can detect group-wise brain atrophy in sCJD. Methods: 3T brain MRI data were analyzed with VBM in 22 sCJD participants and 26 age-matched controls. Analyses included relationships of regional brain volumes with major clinical variables and dichotomization of the cohort according to expected disease duration based on prion molecular classification (i.e., short-duration/Fast-progressors (MM1, MV1, and VV2) vs. long-duration/ Slow-progressors (MV2, VV1, and MM2)). Structural equation modeling (SEM) was used to assess network-level interactions of atrophy between specific brain regions. Results: sCJD showed selective atrophy in cortical and subcortical regions overlapping with all but one region of the default mode network (DMN) and the insulae, thalami, and right occipital lobe. SEM showed that the effective connectivity model fit in sCJD but not controls. The presence of visual hallucinations correlated with right fusiform, bilateral thalami, and medial orbitofrontal atrophy. Interestingly, brain atrophy was present in both Fast-and Slow-progressors. Worse cognition was associated with bilateral mesial frontal, insular, temporal pole, thalamus, and cerebellum atrophy. Interpretation: Brain atrophy in sCJD preferentially affects specific cortical and subcortical regions, with an effective connectivity model showing strength and directionality between regions. Brain atrophy is present in Fast-and Slow-progressors, correlates with clinical findings, and is a potential biomarker in sCJD.

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Multiparameter MR Imaging in the6-OPRIVariant of Inherited Prion Disease

Cited by 8 publications

References 44 publications

Neuroanatomical correlates of prion disease progression - a 3T longitudinal voxel-based morphometry study

Neuroanatomical correlates of prion disease progression - a 3T longitudinal voxel-based morphometry study

Imaging of the6-OPRIMutation Prion Disease: An Entity Distinct from Typical Creutzfeldt-Jakob Disease?

Selective vulnerability to atrophy in sporadic Creutzfeldt‐Jakob disease

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