Cerebral White Matter Disruption in Creutzfeldt-Jakob Disease

Lee, H.; Cohen, Oren S.; Rosenmann, Hana; Hoffmann, Chen; Kingsley, Peter B.; Korczyn, Amos D.; Chapman, Joab; Prohovnik, Isak

doi:10.3174/ajnr.a3125

Cited by 25 publications

(30 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Recently this technique was applied to study 21 patients with E200K genetic prion disease (Lee et al , 2012) and showed reduced fractional anisotropy in many important white matter pathways and suggested that reduced fractional anisotropy was associated with a functional disconnection syndrome (Lee et al , 2012). Whether white matter is primarily affected in CJD or involved secondarily through involvement of cell bodies within the grey matter remains unclear (Kucharczyk and Bergeron, 2004).…”

Section: Introductionmentioning

confidence: 99%

White matter involvement in sporadic Creutzfeldt-Jakob disease

Caverzasi

Mandelli

DeArmond

et al. 2014

Brain

View full text Add to dashboard Cite

Sporadic Creutzfeldt-Jakob disease is considered primarily a disease of grey matter, although the extent of white matter involvement has not been well described. We used diffusion tensor imaging to study the white matter in sporadic Creutzfeldt-Jakob disease compared to healthy control subjects and to correlated magnetic resonance imaging findings with histopathology. Twenty-six patients with sporadic Creutzfeldt-Jakob disease and nine age- and gender-matched healthy control subjects underwent volumetric T1-weighted and diffusion tensor imaging. Six patients had post-mortem brain analysis available for assessment of neuropathological findings associated with prion disease. Parcellation of the subcortical white matter was performed on 3D T1-weighted volumes using Freesurfer. Diffusion tensor imaging maps were calculated and transformed to the 3D-T1 space; the average value for each diffusion metric was calculated in the total white matter and in regional volumes of interest. Tract-based spatial statistics analysis was also performed to investigate the deeper white matter tracts. There was a significant reduction of mean (P = 0.002), axial (P = 0.0003) and radial (P = 0.0134) diffusivities in the total white matter in sporadic Creutzfeldt-Jakob disease. Mean diffusivity was significantly lower in most white matter volumes of interest (P < 0.05, corrected for multiple comparisons), with a generally symmetric pattern of involvement in sporadic Creutzfeldt-Jakob disease. Mean diffusivity reduction reflected concomitant decrease of both axial and radial diffusivity, without appreciable changes in white matter anisotropy. Tract-based spatial statistics analysis showed significant reductions of mean diffusivity within the white matter of patients with sporadic Creutzfeldt-Jakob disease, mainly in the left hemisphere, with a strong trend (P = 0.06) towards reduced mean diffusivity in most of the white matter bilaterally. In contrast, by visual assessment there was no white matter abnormality either on T2-weighted or diffusion-weighted images. Widespread reduction in white matter mean diffusivity, however, was apparent visibly on the quantitative attenuation coefficient maps compared to healthy control subjects. Neuropathological analysis showed diffuse astrocytic gliosis and activated microglia in the white matter, rare prion deposition and subtle subcortical microvacuolization, and patchy foci of demyelination with no evident white matter axonal degeneration. Decreased mean diffusivity on attenuation coefficient maps might be associated with astrocytic gliosis. We show for the first time significant global reduced mean diffusivity within the white matter in sporadic Creutzfeldt-Jakob disease, suggesting possible primary involvement of the white matter, rather than changes secondary to neuronal degeneration/loss.

show abstract

Section: Introductionmentioning

confidence: 99%

White matter involvement in sporadic Creutzfeldt-Jakob disease

Caverzasi

Mandelli

DeArmond

et al. 2014

Brain

View full text Add to dashboard Cite

show abstract

“…Significant reductions of fractional anisotropy in patients with CJD in distinct and functionally relevant white matter pathways (including corticospinal, internal capsule, external capsule, fornix, and posterior thalamic radiation) correlate with progressive leukoencephalopathy and, more importantly, provide diagnostic criteria early in the disease course. 28 The disease stage also has a significant impact on the nature of the MRI pattern. DWI is considered superior to any other MRI sequence in the early stages of CJD.…”

mentioning

confidence: 99%

Creutzfeldt-Jakob disease: updated diagnostic criteria, treatment algorithm, and the utility of brain biopsy

Manix

Kalakoti

Henry

et al. 2015

FOC

147

160

View full text Add to dashboard Cite

Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative condition with a rapid disease course and a mortality rate of 100%. Several forms of the disease have been described, and the most common is the sporadic type. The most challenging aspect of this disease is its diagnosis—the gold standard for definitive diagnosis is considered to be histopatho-logical confirmation—but newer tests are providing means for an antemortem diagnosis in ways less invasive than brain biopsy. Imaging studies, electroencephalography, and biomarkers are used in conjunction with the clinical picture to try to make the diagnosis of CJD without brain tissue samples, and all of these are reviewed in this article. The current diagnostic criteria are limited; test sensitivity and specificity varies with the genetics of the disease as well as the clinical stage. Physicians may be unsure of all diagnostic testing available, and may order outdated tests or prematurely request a brain biopsy when the diagnostic workup is incomplete. The authors review CJD, discuss the role of brain biopsy in this patient population, provide a diagnostic pathway for the patient presenting with rapidly progressive dementia, and propose newer diagnostic criteria.

show abstract

“…This approach allowed us to have a more homogeneous cohort and minimize the Clinical Dementia Rating Scale SD across the patient group. Nine individuals with the 6-OPRI mutation were studied (6-OPRI group: mean age, 38.1 Ϯ 3.6 years; median MiniMental State Examination, 19 [range [11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27]; all codon 129MM). Sixteen healthy volunteers with no history of neurologic disorder were included (Controls group: mean age, 37.1 Ϯ 10.7 years; all Mini-Mental State Examination, 30); Table 1.…”

Section: Patientsmentioning

confidence: 99%

“…These tools have not been applied in IPD, except for patients with the E200K mutation. [16][17][18] We performed VBM, MTR-VBA, and MD-VBA in a cohort of patients with IPD who have the 6-OPRI mutation, some of whom were previously studied with alternative methods. 12,13 We hypothesized that this multiparametric approach would localize brain abnormalities corresponding to known clinical symptoms and neuropsychological deficits and, further, that MTR and MD would quantify microstructural changes even in areas without significant volume loss on VBM.…”

mentioning

confidence: 99%