Neurology® E-Pearl of the Week
June 18, 2015
Variants of sporadic Creutzfeld-Jakob disease
The clinical phenotype of Creutzfeld-Jakob disease (CJD) is most often characterized by a rapidly progressive dementia with myoclonus, ataxia, and often seizures. The time from symptom onset until death is variable, ranging from weeks to years. The sporadic form of CJD (sCJD), which accounts for the majority of cases, results in the most rapid decline1. However, there is variability within this population. In addition to the classic form of sCJD, there are several less common subtypes, including the Heidenhain and Oppenheimer-Brownell variants2. The former is characterized by visual symptoms at illness onset, including diplopia, visual field deficit, hallucinations and/or cortical blindness. The Oppenheimer-Brownell variant presents with ataxia alone at illness onset. The classic symptoms of CJD may arise later on in the disease course. sCJD variants have median survival times that may be double that of typical sCJD2. Diagnosis of classic and variant sCJD relies on clinical assessment, CSF testing for 14-3-3 protein, and knowledge of MRI features specific to each subtype.
- Imran M, Mahmood S. An overview of human prion diseases. Virology Journal 2011; 8: 559.
- Appleby BS, Appleby KK, Crain, BJ, Onyike CU, Walling MT, Rabins PV. Characteristics of established and proposed sporadic Creutzfeldt-Jakob disease variants. Archives of Neurology 2009; 66: 208-215.
Submitted by Adam Numis, MD, Department of Neurology, University of California, Los Angeles.
Disclosures: Dr. Numis is a member of the Residents & Fellows Section of Neurology.