Clinical diagnosis and differential diagnosis of CJD and vCJD

Abstract

The most widely distributed form of transmissible spongiform encephalopathy, sporadic Creutzfeldt‐Jakob disease, typically affects patients in their sixties. Rapidly progressive dementia is usually followed by focal neurological signs and typically myoclonus. The disease duration in sporadic CJD is shorter than in variant CJD (6 months and 14 months, respectively). The clinical diagnosis in sporadic CJD is supported by the detection of periodic sharp and slow wave complexes in the electroencephalogram, hyperintense signals in basal ganglia on magnetic resonance imaging and elevated levels of neuronal proteins in the cerebrospinal fluid (such as 14‐3‐3). In contrast to the sporadic form, hyperintense signals in the posterior thalamus (``pulvinar sign'') are seen in variant CJD. Following recent developments in diagnostic premortem techniques, clinical criteria for probable sporadic and probable variant CJD were established. Clinicopathological studies on sporadic CJD revealed different phenotypes which are characterized by neuropathological lesion profile, clinical syndrome, codon 129 genotype and type of proteinase K‐resistant core of the prion protein. Alzheimer's disease and Lewy body dementia are the most frequent differential diagnoses in sporadic CJD in elderly patients, whereas chronic inflammatory disorders of the central nervous system have to be considered in younger patients.

Creutzfeldt-jakob disease: report of four cases and review of the literature

“…Most often, depressive personality changes, sleep disorders, and loss of weight occur. Impairment of cognitive functions or behavioral abnormalities are key symptoms and are found in most patients (5). The disorder is fatal in short duration.…”

Imaging biomarkers for the diagnosis of Prion disease

“…Variablity has also been reported among affected individuals within families carrying the same mutation. 3,4 Due to the heterogeneity of observed phenotypes, the clinical diagnosis of CJD is a challenging task while the patient is alive, particularly in the earlier stages of the disease. 1 In practice, some cases of CJD are routinely mistaken for other common forms of dementia, which results in CJD being under diagnosed.…”

Hemidystonia Associated With Focal Status Epilepticus as Incipient Manifestations in Probable Creutzfeldt-Jakob Disease

“…This protein is a reliable marker of rapid neuronal destruction [4], and has been detected in the CSF in several progressive neurological disorders [2,[5][6][7]. The performance of the 14-3-3 test has been analyzed mainly on selected populations with predefined patients and control groups, yielding sensitivity and specificity values around 94% and 84%, respectively [8].…”