MRI lesion profiles in sporadic Creutzfeldt-Jakob disease.
BACKGROUND
With respect to sporadic Creutzfeldt-Jakob disease (sCJD), six molecular subtypes (MM1, MM2, MV1, MV2, VV1, and VV2) have been described, which vary with respect to age at disease onset, disease duration, early symptoms, and neuropathology. MRI signal alterations were reported to correlate with distinct Creutzfeldt-Jakob disease (CJD) subtypes. This multicenter, international study aimed to describe the brain MRI findings associated with each of the sCJD molecular subtypes.


METHODS
Pathologically confirmed sCJD cases with codon 129 genotype (MM, MV, and VV), PrP(Sc) type, and fluid-attenuated inversion recovery (FLAIR) or diffusion-weighted imaging (DWI) were collected in seven countries. All MRI scans were assessed for signal changes according to a standard protocol encompassing seven cortical regions, basal ganglia, thalamus, and cerebellum.


RESULTS
MRI scans were evaluated in 211 CJD patients (98 MM1, 23 MM2, 19 MV1, 30 MV2, 9 VV1, and 32 VV2). Basal ganglia hyperintensities occurred most frequently in MV2, VV2, and MM1 subtypes (79, 77, and 70%). Wide cerebral cortical signal increase was most common in VV1, MM2, and MV1 subtypes (86, 77, and 77%). Thalamic hyperintensities occurred most often in VV2 (45%) and MV2 (43%). The most consistent finding across most subtypes was high signal in basal ganglia, with these abnormalities found in 63% (FLAIR) and 71% (DWI).


CONCLUSIONS
Cortical signal increase and hyperintensities in the basal ganglia and thalamus are detected by MRI across all molecular sporadic Creutzfeldt-Jakob disease subtypes. Our findings argue that characteristic MRI lesion patterns may occur for each molecular subtype.
Meissner
B
B
National TSE Reference Center, Department of Neurology, Georg-August University Goettingen, Robert-Koch-Str. 40, 37075 Goettingen, Germany.
Kallenberg
K
K
Sanchez-Juan
P
P
Collie
D
D
Summers
D M
DM
Almonti
S
S
Collins
S J
SJ
Smith
P
P
Cras
P
P
Jansen
G H
GH
Brandel
J P
JP
Coulthart
M B
MB
Roberts
H
H
Van Everbroeck
B
B
Galanaud
D
D
Mellina
V
V
Will
R G
RG
Zerr
I
I
D001479:Basal Ganglia / Q000033:anatomy & histology / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000033:anatomy & histology / Q000473:pathology* / Q000503:physiopathology; D002540:Cerebral Cortex / Q000033:anatomy & histology / Q000473:pathology / Q000503:physiopathology; D003062:Codon; D007562:Creutzfeldt-Jakob Syndrome / Q000145:classification / Q000235:genetics / Q000473:pathology*; D004252:DNA Mutational Analysis; D038524:Diffusion Magnetic Resonance Imaging / Q000379:methods; D018450:Disease Progression; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D015588:Observer Variation; D016017:Odds Ratio; D018620:PrPSc Proteins / Q000235:genetics; D011237:Predictive Value of Tests; D012680:Sensitivity and Specificity; D013788:Thalamus / Q000033:anatomy & histology / Q000473:pathology / Q000503:physiopathology
D003062:Codon; D018620:PrPSc Proteins