Clinical Features and Diagnosis of Human Prion Diseases
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Human prion diseases are rare fatal neurodegenerative conditions that occur as sporadic, inherited, and acquired disorders. Despite clinico-pathological variations, there are common clinical features and characteristic neuropathological changes accompanied by the accumulation of a disease-associated form of the prion protein in the brain (and, in variant, CJD also in lymphoid tissues). While neuropathological examination of the brain is required for an absolutely definite diagnosis, probable or highly probable clinical diagnosis is possible in the majority of cases.
In this chapter, the clinical assessment of human prion disease is reviewed with emphasis on the role of clinical features and relevant clinical investigations in their diagnosis.
Key wordsHuman prion disease CJD Clinical features Clinical diagnosis Diagnostic tests MRI CSF proteins: EEG Genetic tests
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