TY - JOUR
T1 - Magnetic resonance diagnostic markers in clinically sporadic prion disease
T2 - A combined brain magnetic resonance imaging and spectroscopy study
AU - Lodi, Raffaele
AU - Parchi, Piero
AU - Tonon, Caterina
AU - Manners, David
AU - Capellari, Sabina
AU - Strammiello, Rosaria
AU - Rinaldi, Rita
AU - Testa, Claudia
AU - Malucelli, Emil
AU - Mostacci, Barbara
AU - Rizzo, Giovanni
AU - Pierangeli, Giulia
AU - Cortelli, Pietro
AU - Montagna, Pasquale
AU - Barbiroli, Bruno
PY - 2009/10
Y1 - 2009/10
N2 - The intra vitam diagnosis of prion disease is challenging and a definite diagnosis still requires neuropathological examination in non-familial cases. Magnetic resonance imaging has gained increasing importance in the diagnosis of prion disease. The aim of this study was to compare the usefulness of different magnetic resonance imaging sequences and proton magnetic resonance spectroscopy in the differential diagnosis of patients with rapidly progressive neurological signs compatible with the clinical diagnosis of sporadic prion disease. Twenty-nine consecutive patients with an initial diagnosis of possible or probable sporadic prion disease, on the basis of clinical and electroencephalography features, were recruited. The magnetic resonance protocol included axial fluid-attenuated inversion recovery-T2-and diffusion-weighted images, and proton magnetic resonance spectroscopy of the thalamus, striatum, cerebellum and occipital cortex. Based on the clinical follow-up, genetic studies and neuropathology, the final diagnosis was of prion disease in 14 patients out of 29. The percentage of correctly diagnosed cases was 86 for diffusion-weighted imaging (hyperintensity in the striatum/cerebral cortex), 86 for thalamic N-acetyl-aspartate to creatine ratio (cutoff ≤1.21), 90 for thalamic N-acetyl-aspartate to myo-inositol (mI) ratio (cutoff ≤1.05) and 86 for cerebral spinal fluid 14-3-3 protein. All the prion disease patients had N-acetyl-aspartate to creatine ratios ≤1.21 (100 sensitivity and 100 negative predictive value) and all the non-prion patients had N-acetyl-aspartate to myo-inositol ratios >1.05 (100 specificity and 100 positive predictive value). Univariate logistic regression analysis showed that the combination of thalamic N-acetyl-aspartate to creatine ratio and diffusion-weighted imaging correctly classified 93 of the patients. The combination of thalamic proton magnetic resonance spectroscopy (10 min acquisition duration) and brain diffusion-weighted imaging (2 min acquisition duration) may increase the diagnostic accuracy of the magnetic resonance scan. Both sequences should be routinely included in the clinical work-up of patients with suspected prion disease.
AB - The intra vitam diagnosis of prion disease is challenging and a definite diagnosis still requires neuropathological examination in non-familial cases. Magnetic resonance imaging has gained increasing importance in the diagnosis of prion disease. The aim of this study was to compare the usefulness of different magnetic resonance imaging sequences and proton magnetic resonance spectroscopy in the differential diagnosis of patients with rapidly progressive neurological signs compatible with the clinical diagnosis of sporadic prion disease. Twenty-nine consecutive patients with an initial diagnosis of possible or probable sporadic prion disease, on the basis of clinical and electroencephalography features, were recruited. The magnetic resonance protocol included axial fluid-attenuated inversion recovery-T2-and diffusion-weighted images, and proton magnetic resonance spectroscopy of the thalamus, striatum, cerebellum and occipital cortex. Based on the clinical follow-up, genetic studies and neuropathology, the final diagnosis was of prion disease in 14 patients out of 29. The percentage of correctly diagnosed cases was 86 for diffusion-weighted imaging (hyperintensity in the striatum/cerebral cortex), 86 for thalamic N-acetyl-aspartate to creatine ratio (cutoff ≤1.21), 90 for thalamic N-acetyl-aspartate to myo-inositol (mI) ratio (cutoff ≤1.05) and 86 for cerebral spinal fluid 14-3-3 protein. All the prion disease patients had N-acetyl-aspartate to creatine ratios ≤1.21 (100 sensitivity and 100 negative predictive value) and all the non-prion patients had N-acetyl-aspartate to myo-inositol ratios >1.05 (100 specificity and 100 positive predictive value). Univariate logistic regression analysis showed that the combination of thalamic N-acetyl-aspartate to creatine ratio and diffusion-weighted imaging correctly classified 93 of the patients. The combination of thalamic proton magnetic resonance spectroscopy (10 min acquisition duration) and brain diffusion-weighted imaging (2 min acquisition duration) may increase the diagnostic accuracy of the magnetic resonance scan. Both sequences should be routinely included in the clinical work-up of patients with suspected prion disease.
KW - Diffusion-weighted imaging
KW - Magnetic resonance
KW - Prion diseases
KW - Proton MR spectroscopy
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U2 - 10.1093/brain/awp210
DO - 10.1093/brain/awp210
M3 - Article
C2 - 19755520
AN - SCOPUS:70349941101
VL - 132
SP - 2669
EP - 2679
JO - Brain
JF - Brain
SN - 0006-8950
IS - 10
ER -