MRI lesion profiles in sporadic Creutzfeldt–Jakob disease

Abstract

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.

Imaging of prion diseases

“…A recent multinational study further demonstrated that thalamic lesions were mainly seen in the MV2 and VV2 molecular subtypes (6). Topographically, thalamic lesions are more frequently seen within the pulvinar followed by the dorsomedial and anterolateral thalamus (6). The combination of pulvinar and dorsomedial thalamus involvement produce the hockey-stick sign, first describe in the new variant but also seen in sporadic cases (44).…”

“…It has been reported to occur in 12.5-34% of sCJD patients (8,9). A recent multinational study further demonstrated that thalamic lesions were mainly seen in the MV2 and VV2 molecular subtypes (6). Topographically, thalamic lesions are more frequently seen within the pulvinar followed by the dorsomedial and anterolateral thalamus (6).…”

“…Most of the reported sCJD cases demonstrated thalamic signal intensity lower than the basal ganglia involvement, (47)(48)(49), but other reports did fulfill the pulvinar sign criteria (6,44,47). When a true pulvinar sign is seen in a sCJD patients, the main molecular subtype appears to be MV2 (6). Again, one must keep in mind the dynamic imaging features of CJD and the possibility that this sign may evolve over time.…”

“…Another factor is the protein type, either 1 or 2, based on the pattern of migration on Western blot after limited proteolysis. These two variables taken together provide the basis for the molecular classification into six subtypes of CJD, which correlates with different clinical, paraclinical, and neuroimaging presentations (Table 2) (4,6,7). This molecular classification is still evolving and a new classification has been recently proposed taking into account the fact that the two main types of prion proteins may coexist (4).…”

“…This molecular classification is still evolving and a new classification has been recently proposed taking into account the fact that the two main types of prion proteins may coexist (4). Cortex (64%), widespread cortical involvement in half (6) Median age at onset 66 years (7) Typically spares the hippocampus and thalamus (6) MM2-Thalamic Sporadic fatal insomnia (3): Insomnia, psychomotor hyperactivity, autonomic dysfunction, ataxia and cognitive impairment (7,58) 0-20% (1/5(58), 0/6(7)) 20% (1/5 cases)(58)) MRI, including DWI, generally negative (10,58) Frequency: 2% (7) MM2-Cortical Atypical sCJD: Dementia (variable course), aphasia, myoclonus (7,56,58) 19-42% (6,56) …”