To characterise the CBS presentation of sCJD (sCJD-CBS) in the context of existing CBD diagnostic criteria.
Data of two new cases of sCJD-CBS and seven patients identified from the Australian National Creutzfeldt-Jakob Disease Registry database was reviewed. Additional data from 11 published cases was incorporated to illustrate the natural history of sCJD-CBS. Comparison was made with pathologically diagnosed CBD cases with ante-mortem CBS presentation (CBD-CBS).
sCJD-CBS accounts for 1.8 % of all Australian sCJD cases. Compared to CBD-CBS, disease progression is more rapid in sCJD-CBS (median time to diagnosis 48 vs.1.5 months, p?<?0.001; and disease duration until death 68 vs. 5 months, p?<?0.001). Although no clinical features separate the two, alien limb and myoclonus tend to occur early in sCJD-CBS following initial ¡®sensory¡¯ disturbance in the affected limb. Consistent with sCJD, distinctive diffusion weighted imaging (DWI) abnormalities on magnetic resonance imaging may also occur in sCJD-CBS.
sCJD should be suspected in patients presenting with CBS when clinical progression is rapid and accompanied by DWI abnormalities, even without cerebrospinal fluid 14-3-3 protein detection and electroencephalographic periodic sharp wave complexes. We propose the addition of rapid (<12months) progression to akinetic-mutism or death and DWI abnormalities as exclusions in future CBD diagnostic criteria.