Caister Academic Press

Clinical Aspects of Human Prion Diseases

Richard Knight and Graeme Mackenzie
from: Prions: Current Progress in Advanced Research (Second Edition) (Edited by: Akikazu Sakudo and Takashi Onodera). Caister Academic Press, U.K. (2019) Pages: 71-84.


Human prion disease is divided into three broad classes: idiopathic, genetic and acquired. There are significant differences in clinical presentation both between and within these three groups, but all are progressive, fatal brain diseases with dementia, cerebellar ataxia and involuntary movements being particularly prominent features. Absolutely definite diagnosis requires neuropathological analysis of brain tissue but there are established clinical diagnostic criteria and a variety of supportive investigations that have included the EEG, cerebral MRI and CSF protein analysis. For variant CJD, tonsil biopsy is an additional test and, in genetic prion disease, blood testing for pathogenic PRNP mutations is possible. Recent developments, based on prion protein amplification and detection, have resulted in a number of sensitive and more specific diagnostic tests read more ...
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