Unusual Clinical Presentations Challenging the Early Clinical Diagnosis of Creutzfeldt-Jakob Disease

Journal of Alzheimer's Disease : JAD
Simone BaiardiPiero Parchi

Abstract

The introduction of prion RT-QuIC, an ultrasensitive specific assay for the in vivo detection of the abnormal prion protein, has significantly increased the potential for an early and accurate clinical diagnosis of Creutzfeldt-Jakob disease (CJD). However, in the clinical setting, the early identification of patients with possible CJD is often challenging. Indeed, CJD patients may present with isolated symptoms that remain the only clinical manifestation for some time, or with neurological syndromes atypical for CJD. To enhance awareness of unusual disease presentations and promote earlier diagnosis, we reviewed the entire spectrum of atypical early manifestations of CJD, mainly reported to date as case descriptions or small case series. They included sensory either visual or auditory disturbances, seizures, isolated psychiatric manifestations, atypical parkinsonian syndromes (corticobasal syndrome, progressive supranuclear palsy-like), pseudobulbar syndrome, isolated involuntary movements (dystonia, myoclonus, chorea, blepharospasm), acute or subacute onsets mimicking a stroke, isolated aphasia, and neuropathy. Since CJD is a rare disease and its clinical course rapidly progressive, an in-depth understanding and awareness of e...Continue Reading

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Citations

Sep 22, 2019·Journal of Neurology·Samir Abu-RumeilehPiero Parchi
Nov 22, 2019·Neurology. Clinical Practice·Justin GravelineHeather J MacLean
Apr 22, 2020·The International Journal of Neuroscience·Grammatiki KatsikakiSevasti Bostantjopoulou
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Jul 6, 2021·Alzheimer's & Dementia : Diagnosis, Assessment & Disease Monitoring·Andrea MastrangeloPiero Parchi
Jan 29, 2022·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Anna Rita GiovagnoliOrso Bugiani

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Methods Mentioned

BETA
PCA
genotyping

Software Mentioned

SALSA ( Search , AppraisaL , Synthesis and Analysis )

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