Clinical Aspects of Variant CJD

Summary

Variant CJD is one of the human prion diseases and has relatively uniform clinico-pathological characteristics, reflecting its presumed single cause and the uniform genotype of affected individuals. Typically, it presents with predominantly psychiatric features (often relatively non-specific ones suggesting depression) and any accompanying neurological features are often interpreted as part of a primarily psychiatric illness; variant CJD may be very difficult to diagnose in the early stages. Psychiatric features may remain as part of the overall picture even following the development of clear-cut neurological signs (after a median of around six months). The obviously neurological clinical picture is typically one of a rapidly progressive dementia with cerebellar ataxia, involuntary movements and painful sensory disturbances leading to death at a median of 14 months from onset. Definite diagnosis requires neuropathology but clinical diagnostic criteria have been developed allowing a very confident pre-mortem diagnosis in the majority of cases. These criteria depend on the exclusion of other diseases, the presence of a typical clinical picture and the results of certain supportive investigations, most notably the cerebral MRI and tonsil biopsy.