Creutzfeldt-Jakob disease
Updates to Article Attributes
Creutzfeldt-Jakob disease (CJD) is aspongiform spongiform encephalopathy that results in a rapidly progressive dementia and other non-specific neurological features and death usually within a year or less from onset.
On imaging it classically manifests as T2/FLAIR hyperintensities within the basal ganglia, the thalamus, and cortex which also show diffusion restriction on DWI/ADC sequences.
Epidemiology
Four types of Creutzfeldt-Jakob disease have been described 2,6:
- sporadic (sCJD): accounts for 85-90% of cases
- variant (vCJD): mad cow disease, Kuru
- familial (fCJD): 10% of cases (these individuals carry a PRPc mutation)
- iatrogenic
Clinical presentation
Creutzfeldt-Jakob disease is characterized by rapidly progressive dementia, cerebral atrophy, myoclonus and death. Patients with vCJD present mostly with sensory and psychiatric symptoms; patients with sCJD usually present with progressive cognitive impairment and cerebellar symptoms.
Diagnostic markers
- characteristic results on electroencephalography (EEG)
- S100
- 14-3-3 protein: for patients with suspected CJD, CSF 14-3-3 assays should be performed. In diagnosing CJD (the sensitivity is 92%, specificity is 80%).A negative 14-3-3 assay may be helpful in reducing the suspicion of sCJD, a positive CSF 14-3-3 assay may be found in a potentially treatable case of dementia. These findings need to be correlated with
patientspatient's history as CSF 14-3-3 can be false positive in treatable dementing disorders 7-8.
A definitive diagnosis requires a brain biopsy, although in many institutions the difficulty involved in sterilising equipment renders a biopsy undesirable.
Pathology
CJD is thought to be mediated via (infectious) prions, a type of protein, which manifest in sheep as the disease scrapie, and in cows as bovine spongiform encephalopathy. Prions are considered infectious in sense that they can alter the structure of neighbouring proteins.
CJD leads to spongiform degeneration of the brain, which is thought to be caused by the conversion of normal prion protein to proteinaceous infectious particles that accumulate in and around neurons and lead to cell death.
Radiographic features
MRI
MRI findings may be bilateral or unilateral and symmetric or asymmetric, and include:
-
T2
hyperintensity: hyperintensity- basal ganglia (putamen and caudate)
- thalamus (see hockey stick sign
andand pulvinar sign) - cortex: most common early manifestation
- white matter
-
DWI/ADC: persistent restricted diffusion
on DWI(considered the most sensitive sign) -
hypometabolism on18FDG-PET studies
Review of sequential studies also typically demonstrates rapidly progressive cerebral atrophy.
Nuclear medicine
- hypometabolism on 18FDG-PET studies
Treatment and prognosis
There is currently no curative treatment and the disease is invariably fatal with a mean survival of only 7 months for most cases.
Since 2009, CJD is a notifiable disease in Australia and by law is required to be reported to the Department of Health. CJD is also notifiable in the United Kingdom, USA and Canada.
History and etymology
It was named after Hans Gerhard Creutzfeldt, a German neurologist who first described the condition in 1920, and Alfons Maria Jakob, a German neurologist who also described the condition in a separate study.
-<p><strong>Creutzfeldt-Jakob disease (CJD)</strong> is a <a href="/articles/spongiform-encephalopathy">spongiform encephalopathy</a> that results in a rapidly progressive dementia and other non-specific neurological features. </p><h4>Epidemiology</h4><p>Four types of Creutzfeldt-Jakob disease have been described <sup>2,6</sup>:</p><ul>- +<p><strong>Creutzfeldt-Jakob disease (CJD)</strong> is a spongiform encephalopathy that results in a rapidly progressive dementia and other non-specific neurological features and death usually within a year or less from onset. </p><p>On imaging it classically manifests as T2/FLAIR hyperintensities within the basal ganglia, the thalamus, and cortex which also show diffusion restriction on DWI/ADC sequences. </p><h4>Epidemiology</h4><p>Four types of Creutzfeldt-Jakob disease have been described <sup>2,6</sup>:</p><ul>
-<li>variant (vCJD): mad cow disease , <a href="/articles/kuru">Kuru</a> </li>- +<li>variant (vCJD): mad cow disease, <a href="/articles/kuru">Kuru</a> </li>
-<li>14-3-3 protein: for patients with suspected CJD, CSF 14-3-3 assays should be performed. In diagnosing CJD (the sensitivity is 92%, specificity is 80%).<br>A negative 14-3-3 assay may be helpful in reducing the suspicion of sCJD, a positive CSF 14-3-3 assay may be found in a potentially treatable case of dementia. These findings need to be correlated with patients history as CSF 14-3-3 can be false positive in treatable dementing disorders <sup>7-8</sup>.</li>- +<li>14-3-3 protein: for patients with suspected CJD, CSF 14-3-3 assays should be performed. In diagnosing CJD (the sensitivity is 92%, specificity is 80%).<br>A negative 14-3-3 assay may be helpful in reducing the suspicion of sCJD, a positive CSF 14-3-3 assay may be found in a potentially treatable case of dementia. These findings need to be correlated with patient's history as CSF 14-3-3 can be false positive in treatable dementing disorders <sup>7-8</sup>.</li>
-<li>T2 hyperintensity<ul>- +<li>
- +<strong>T2</strong>: hyperintensity<ul>
-<li>thalamus (see <a href="/articles/hockey-stick-sign">hockey stick sign </a>and <a href="/articles/pulvinar-sign">pulvinar sign</a>)</li>- +<li>thalamus (see <a href="/articles/hockey-stick-sign">hockey stick sign</a> and <a href="/articles/pulvinar-sign">pulvinar sign</a>)</li>
-<li>persistent restricted diffusion on DWI (considered the most sensitive sign)</li>-<li>hypometabolism on <sup>18</sup>FDG-PET studies</li>-</ul><p>Review of sequential studies also typically demonstrates rapidly progressive cerebral atrophy.</p><h4>Treatment and prognosis</h4><p>There is currently no curative treatment and the disease is invariably fatal with a mean survival of only 7 months for most cases.</p><p>Since 2009, CJD is a notifiable disease in Australia and by law is required to be reported to the Department of Health. CJD is also notifiable in the United Kingdom, USA and Canada.</p>- +<li>
- +<strong>DWI/ADC</strong>: persistent restricted diffusion (considered the most sensitive sign)</li>
- +</ul><p>Review of sequential studies also typically demonstrates rapidly progressive cerebral atrophy.</p><h5>Nuclear medicine </h5><ul><li>hypometabolism on <sup>18</sup>FDG-PET studies</li></ul><h4>Treatment and prognosis</h4><p>There is currently no curative treatment and the disease is invariably fatal with a mean survival of only 7 months for most cases.</p><p>Since 2009, CJD is a notifiable disease in Australia and by law is required to be reported to the Department of Health. CJD is also notifiable in the United Kingdom, USA and Canada.</p><h4>History and etymology</h4><p>It was named after <strong>Hans Gerhard Creutzfeldt</strong>, a German neurologist who first described the condition in 1920, and <strong>Alfons Maria Jakob</strong>, a German neurologist who also described the condition in a separate study. </p>
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