Creutzfeldt-Jacob disease (CJD)
General description
Creutzfeldt-Jacob disease (CJD) is caused by abnormally fold prion infection resulting in rapidly progressive neurological deficits. The disease is classified into three groups based on cause.
- Idiopathic CJD
- Familial CJD
- Acquired CJD
Idiopathic CJD is 80% of the disease, including sporadic CJD (sCJD), sporadic familial insomnia, and variably protease-sensitive proteinopathy. Of the idiopathic forms, sCJD is the most common. This article mainly describes sCJD.
Typical onset of CJD is starting from nonspecific symptoms such as ataxia and dizziness, leading to acute dementia, extrapyramidal symptoms, and myoclonus.
Cortical hyperintensity
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CerebrumCerebral cortex
MRI shows asymmetric high signals confined to the cerebral cortex on DWI or FLAIR. The hippocampus and other limbic areas are preserved, which may be a strong differentiator from Limbic encephalitis.
Striatum hyperintensity
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Caudate nucleus
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Putamen
DWI typically demonstrates asymmetric hyperintensity in the striatum, with preservation of the anterior limb of the internal capsule. It is rare for DWI hyperintensity in the striatum to occur in isolation; it is usually accompanied by DWI hyperintensity in the cerebral cortex.
Hockey stick sign
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ThalamusPulvinar
The "hockey stick sign" of the thalamic pulvinar was initially described as a specific finding of Variant Creutzfeldt-Jakob disease (vCJD). However, this sign has also been observed in idiopathic and familial types of CJD.
DWI reveals bilateral hyperintensity of the thalamic pulvinar, with occasional involvement of the entire thalamus.
Cerebral atrophy
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Cerebrum
As symptoms progress, cerebral atrophy occurs and the DWI high signal disappears.
White matter hyperintensity
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CerebrumCerebral white matterPeriventricular white matter
White matter hyperintensities typically emerge from the periventricular white matter and expand throughout the white matter as the course of symptoms progresses.