Introduction
Prion diseases are a group of rare neurodegenerative diseases that are
caused by infectious abnormally structured and shaped proteins - prions
- which impose their structure onto nearby normal prion proteins,
thereby propagating and causing progressive cell damage and death
[1]. Creutzfeldt – Jakob disease (CJD) is the most common human
prion disease and has a prevalence of 1 new case per 1 million
individuals each year worldwide and usually presents in the 7th decade
of life [2]. Sporadic CJD (sCJD) accounts for up to 85-95% of CJD
cases, while other genetic and acquired forms are far less common,
accounting for 5-15% and less than 1% of cases, respectively [3].
CJD is a clinically heterogeneous disease but typically presents with
rapid cognitive and neuropsychiatric deterioration. The most common
clinical presentation is rapid cognitive decline progressing to
dementia; other manifestations include behavioral abnormalities,
myoclonus, pyramidal/extrapyramidal signs, cerebellar symptoms and
higher cortical dysfunction (i.e., aphasia, apraxia, acalculia,
agraphia, neglect), which are seen in about half of all reported cases
[4; 5; 6]. Clinical picture, in combination with cerebrospinal fluid
(CSF), electroencephalography (EEG), and brain magnetic resonance
imaging (MRI) studies form the basis of in vivo diagnosis of CJD;
histopathological confirmation, however, still remains the gold standard
for diagnosing definite CJD (Table 1). MRI is a very valuable tool in
detecting signal abnormalities suggestive of CJD in an appropriate
clinical context, approaching a sensitivity of 91% and a specificity of
95% [7].
Unfortunately, CJD is incurable and universally fatal, usually
progressing rapidly over 6 to 12 months.