Isolated language impairment as the primary presentation of sporadic Creutzfeldt Jakob Disease

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Sporadic Creutzfeldt Jakob Disease (sCJD) is an invariably fatal neurodegenerative disorder that typically presents as a rapidly progressive encephalopathy with prominent cognitive impairment, associated with various other neurological features, most characteristically cerebellar ataxia, visual disturbance and myoclonus, culminating in akinetic mutism and death with a median disease duration of around 5 months 1. There is significant clinicopathological heterogeneity in sCJD and atypical presentations exist, complicating early diagnosis 2. One particular diagnostic difficulty concerns presentation with an isolated, or virtually isolated, focal clinical feature. The two best documented such presentations of sCJD are the Brownell Oppenheimer form (pure cerebellar onset) 4 and the Heidenhain form (pure visual onset) 7, but other forms of focal presentation such as deafness, 9 or monoparesis 11 have been reported. The typical onset in sCJD may involve prominence of some focal features, for example, cerebellar ataxia, but these atypical cases present with such features in isolation; there is no absolute definition of the period over which these features should be present in isolation, but a period of at least 2 weeks has been used in previous publications 6.
In this study, we report a patient with sCJD referred to the UK National CJD Research and Surveillance Unit (NCJDRSU), who presented with an isolated language impairment. The presentation of sCJD with focal language disturbance is insufficiently recognized. We subsequently identified all cases of sporadic CJD on the NCJDRSU database (covering the years 1990–2012) with an isolated language impairment presentation and here report their clinical features, investigation results and neuropathological data. We determined the frequency of this unusual presentation of sCJD in the UK and discuss its diagnosis.
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