neurologic disorders
Creutzfeldt Jakob Disease (CJD)
Diagnosis of Creutzfeldt Jakob Disease
Diffusion-weighted MRI Markers in cerebrospinal fluid (CSF) Exclusion of other disorders Creutzfeldt-Jakob disease should be considered in older patients with rapidly progressive dementia, especially if accompanied by myoclonus or ataxia. However, other disorders can mimic CJD and must be considered; they include Central nervous system (CNS) vasculitis Rapidly progressive Alzheimer Disease None Hashimoto encephalopathy (an autoimmune encephalopathy that is characterized by high thyroid antibody levels and that responds to corticosteroids) Intravascular lymphoma (a rare lymphoma) Encephalitis that affects the limbic system, brain stem, and cerebellum Dementia with Lewy Bodies and Parkinson Disease Dementia None Intoxication withlithiumor bismuth. CJD is suspected in symptomatic younger patients when they have been exposed to prion-contaminated beef in the UK or other at-risk countries or who have a family history of CJD (familial CJD). Rarely, sCJD develops in young patients, but in such patients, other diseases must be excluded. Diagnosis of CJD may be difficult. The best noninvasive diagnostic test for CJD is Diffusion-weighted MRI It can detect evolving patchy areas of hyperintensity (bright areas) in the cortical ribbon and/or basal ganglia, which strongly suggest CJD. Proteins 14-3-3, brain-specific enolase, and tau are commonly increased in CSF but are not specific for CJD. A CSF test, called real-time quaking-induced conversion (RT-QuIC), amplifies and detects minimal amounts of prion activity in CSF; this test appears to be more accurate than previous CSF tests, with a sensitivity of about 90% and a specificity of about 99% ( Diagnosis reference ). A similar test can reliably detect evidence of vCJD by identifying prions in urine. EEG is done. Results are positive in about 70% of patients with CJD; EEG shows characteristic periodic sharp waves, but this pattern typically occurs late in the disease and may be transient. Brain biopsy is usually unnecessary. 1.Foutz A, Appleby BS, Hamlin C, et al: Diagnostic and prognostic value of human prion detection in cerebrospinal fluid.Ann Neurol81 (1):79–92, 2017. doi: 10.1002/ana.24833 