ArticleAJNR. American journal of neuroradiology2008
MR imaging of familial Creutzfeldt-Jakob disease: a blinded and controlled study.
Article in AJNR. American journal of neuroradiology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Diagnostic value of diffusion-weighted brain magnetic resonance imaging in patients with sporadic Creutzfeldt-Jakob disease: a systematic review and meta-analysis.European radiology · 2021Pooled it
- Article
- Tauopathy and Movement Disorders-Unveiling the Chameleons and Mimics.Frontiers in neurology · 2020Review
- Clinical radiological correlation in E200K familial Creutzfeldt-Jakob disease.Journal of neural transmission (Vienna, Austria : 1996) · 2016Article
- Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease.European journal of neurology · 2016Article
- Clinical findings and diagnosis in genetic prion diseases in Germany.European journal of epidemiology · 2016Article
- Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD.Journal of neurology · 2015Article
- Characterization of sleep disorders in patients with E200K familial Creutzfeldt-Jakob disease.Journal of neurology · 2015Article
- Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases.Acta neuropathologica communications · 2013Article
- Neuroimaging biomarkers of neurodegenerative diseases and dementia.Seminars in neurology · 2013Review
- Cerebral white matter disruption in Creutzfeldt-Jakob disease.AJNR. American journal of neuroradiology · 2012Article
- The EEG in E200K familial CJD: relation to MRI patterns.Journal of neurology · 2012Article
- The value of magnetic resonance imaging in the early diagnosis of Creutzfeldt-Jakob disease - own experience.Polish journal of radiology · 2012Article
- The Creutzfeldt-Jakob disease (CJD) neurological status scale: a new tool for evaluation of disease severity and progression.Acta neurologica Scandinavica · 2011Article
- Pruritus in familial Creutzfeldt-Jakob disease: a common symptom associated with central nervous system pathology.Journal of neurology · 2011Article
- An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2010Article
- Combined diffusion imaging and MR spectroscopy in the diagnosis of human prion diseases.AJNR. American journal of neuroradiology · 2010Article
- Putaminal volume and diffusion in early familial Creutzfeldt-Jakob disease.Journal of the neurological sciences · 2010Article
- Enhanced detection of diffusion reductions in Creutzfeldt-Jakob disease at a higher B factor.AJNR. American journal of neuroradiology · 2010Article
- Codistribution of amyloid beta plaques and spongiform degeneration in familial Creutzfeldt-Jakob disease with the E200K-129M haplotype.Archives of neurology · 2009Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
background and purposeThe E200K mutation of the PRNP (prion protein) gene is the most common cause of familial Creutzfeldt-Jakob disease (fCJD), which has imaging and clinical features that are similar to the sporadic form. The purpose of this study was to conduct a controlled and blinded evaluation of the sensitivity and specificity of MR imaging in this unique population. MATERIALS AND
methodsWe compared the MR imaging characteristics of 15 early stage familial CJD patients (age, 60 +/- 7 years) with a group of 22 healthy subjects from the same families (age, 61 +/- 8 years). MR imaging included diffusion-weighted imaging (DWI), T2-weighted fast spin-echo imaging, and a fluid-attenuated inversion recovery (FLAIR) sequence. The scans were rated for abnormalities by an experienced neuroradiologist blind to diagnosis, group assignment, age, and sex.
resultsThirteen of 15 fCJD subjects had abnormal MR imaging. FLAIR signal intensity abnormality in the caudate or putamen nuclei demonstrated a sensitivity of 87% and specificity of 91%. DWI abnormality in the caudate nucleus showed a sensitivity of 73% and a specificity of 100%. Abnormalities in the thalamus (6 patients), cingulate gyrus (6 patients), frontal lobes (4 patients), and occipital lobes (3 patients) were best detected with DWI. No signal intensity abnormalities were demonstrated in the cerebellum. T2-weighted and T1-weighted sequences were uninformative.
conclusionsFLAIR and DWI abnormalities in the caudate nucleus and putamen offer the best sensitivity and specificity for diagnosing fCJD. Our findings support recent recommendations that MR imaging should be added to the diagnostic evaluation of CJD.
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