Creutzfeldt Jakob Disease


Article Author:
Kranthi Sitammagari


Article Editor:
Wajeed Masood


Editors In Chief:
Linda Lindsay


Managing Editors:
Avais Raja
Orawan Chaigasame
Carrie Smith
Abdul Waheed
Khalid Alsayouri
Trevor Nezwek
Radia Jamil
Patrick Le
Anoosh Zafar Gondal
Saad Nazir
William Gossman
Hassam Zulfiqar
Hussain Sajjad
Steve Bhimji
Muhammad Hashmi
John Shell
Matthew Varacallo
Heba Mahdy
Ahmad Malik
Sarosh Vaqar
Mark Pellegrini
James Hughes
Beata Beatty
Beenish Sohail
Nazia Sadiq
Hajira Basit
Phillip Hynes


Updated:
2/20/2019 11:37:39 AM

Introduction

Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, rare, transmissible, universally fatal, neurodegenerative condition caused by prion proteins. This condition was first described in 1920 by Hans Creutzfeldt, later described in 1921 and 1923 by Alfons Jakob. Later, Clearance J. Gibbs started using the term Creutzfeldt-Jacob disease (CJD) because the acronym was closer to his initials.[1][2][3][4]

Etiology

CJD belongs to a family of prion diseases or transmissible spongiform encephalopathies which can cause several fatal neurodegenerative disorders in humans and animals. The infectious agent is “prion” (a protein) that can be transmitted either by direct contact with contaminated tissue (iatrogenic) or via inheriting a mutation in the prion protein gene (familial). However, most cases of CJD are sporadic. The word “prion” derives from the words “proteinaceous” and “infectious,” in reference to the previously unknown form of infection due to protein misfolding in 1982. Prions were named and discovered by Stanley Prusiner, who received the 1997 Nobel Prize in physiology or medicine for his work on prions.[5][6][7]

Types of CJD

Sporadic

  • The commonest type of CJD
  • In 85% of cases
  • Occurs spontaneously, without a known cause
  • The peak age of onset is 55 to 75 years old, with a median age of onset of 68 and mean of 61 years.
  • Mean survival of 4 to 8 months, and 90% of patients die within 1 year

Genetic/Familial

  • Second most common type of CJD
  • Ten percent to 15% of cases.
  • May have a family history and positive genetic mutation test.
  • Due to autosomal dominant mutations in the PRNP gene encoding the prion protein

Acquired

  • Iatrogenic or oral transmission from human or animal. Through some surgical procedures, transmission occurs when exposed to the infected brain or nervous tissue.
  • Less than 1% of cases
  • Usually seen in young adults, mean age 29
  • Pulvinar sign noted in MRI (hyperintensity of the pulvinar relative to the anterior putamen)

A Variant Form of CJD

Acquired by consuming infected beef resulting in a bovine disease similar to human CJD called bovine spongiform encephalopathy (BSE) or  “mad cow” disease. The majority of cases have occurred in the United Kingdom and France.

Epidemiology

Creutzfeldt-Jakob disease (CJD) affects about 1 individual per million per year worldwide. Approximately 350 cases are diagnosed annually in the United States. Sporadic CJD is the commonest forms of human prion disease, and the mean age of onset is 61 years. Death occurs in nearly 70% of patients within 1 year of onset.

Pathophysiology

Normal cellular prion protein (PrP) is found on the membranes of cells throughout the body even in healthy people and animals. It has complex functions which are yet to be fully discovered. CJD is caused by the transformation of the normal cellular prion protein PrP (C stands for the normal cellular form) into abnormal, structurally changed, a disease-causing form called the prion PrP (Sc stands for scrapie, the prion disease of sheep and goats) which then self-propagates and accumulates throughout the brain. The infectious isoform of prion protein (PrP), known as PrP triggers the normal PrP proteins to convert into the infectious isoform (PrP) by inducing a structural change in native prion proteins, which accounts for its infective capacity. It is believed that both, the transformation of prion proteins into prions and accumulation of prions lead to neurodegeneration.

History and Physical

Sporadic CJD is the commonest prion disease affecting humans and usually manifests as a rapidly progressing dementia with ataxia and myoclonus leading to death usually within one year, sometimes even quicker. It usually affects older individuals with a peak age of onset between 55 to 75 years old, the median age of death is 68 years, and median duration of illness is 4 to 5 months. It presents similar to dementia with early neurological signs but progresses very rapidly. In the early stages of the sporadic CJD, patients may develop vertigo, headache, fatigue, sleep disorders. However, memory problems, behavioral changes like agitation, irritability, depression, apathy and mood swings, sensory changes like incoordination, and vision loss can also occur. As the disease advances, rapidly worsening confusion, disorientation, problems with memory/thinking/planning/judgment becomes more pronounced and involuntary jerky movements, myoclonus, muscle stiffness and muscle twitching can develop. Extrapyramidal symptoms like bradykinesia, dystonia, rigidity and sometimes blindness can occur. Patients gradually lose mobility, speech and develop into a comatose state. Certain infections such as pneumonia can lead to death.

Variant CJD (vCJD) occurs in young patients with median duration of illness between 13 to 14 months and the median age at death is 28 years. It usually begins with psychiatric symptoms, behavioral symptoms, and painful dysesthesias. Neurological signs are delayed and have a longer than usual duration from onset of symptoms to death. As prions have been detected in blood and urine of patients with symptomatic vCJD, until the potential infectivity of these prions is established, caution should be exercised when handling body fluids and tissues from patients with vCJD.

Evaluation

Creutzfeldt-Jakob disease is often a diagnostic challenge for physicians as it presents similarly to rapidly progressing dementias.[8][9][10]

Recommended initial screening tests for evaluation of a rapidly progressive dementia are complete blood count (CBC), basic metabolic panel including magnesium level, liver function tests, rapid plasma reagin, erythrocyte sedimentation rate, antinuclear antibody, C-reactive protein, thyroid function tests, vitamin B-12, HIV, Lyme disease, autoimmune antibodies, urinalysis, cerebrospinal (CSF) studies including glucose, oligoclonal bands, cell count and differential, oligoclonal bands, VDRL, MRI brain (including FLAIR and DWI) with and without contrast, EEG. With summation of clinical presentation and supportive diagnostic studies, Creutzfeldt-Jakob disease can be diagnosed.

In 1998, the WHO published diagnostic criteria for CJD with the diagnosis relying on clinical examination, EEG and CSF findings. However, due to advances in medicine with newer testing like MRI, genetic testing, and other modern laboratory tests, the diagnostic criteria perhaps need to be updated.

Several tests can help diagnose CJD including MRI brain, CSF based tests, and EEG.

MRI brain is more sensitive and specific test than CSF 14–3–3 protein and found to be accurate in about 90% of cases. Brain MRI with T2-weighted, diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) sequences often reveal abnormalities in the cortical gray matter (cortical ribboning) and deep nuclei in sCJD. MRI with DWI/FLAIR imaging has a sensitivity of 98% and specificity of 93%. DWI typically demonstrates hyperintensities within the basal ganglia, thalamus, and cortex. The “hockey stick” or “pulvinar” sign is indicative of variant (infectious acquired) CJD, but also seen in other forms of CJD.

CSF protein biomarkers including 14–3–3 protein, total tau (t-tau) and neuron-specific enolase (NSE) are markers of rapid neurodegeneration, so they assist in CJD diagnosis, but these are not CJD specific. Routine CSF studies including glucose, total protein, white blood cell count, total cell count and oligoclonal IgG are generally unremarkable in CJD patients. In 2012, the American Academy of Neurology recommended ordering CSF 14-3-3 only when CJD is strongly suspected. A recent comparison of these three non-prion-specific CSF biomarkers and MRI found that DWI MRI had a higher diagnostic accuracy of 97%, more than any or all of these three CSF biomarkers like t-tau (79.6%) or 14-3-3 protein (70.4%) or NSE (71.4%). Detection of these traditional surrogate marker proteins is accurate in approximately three-fourths of cases.

The National Prion Disease Pathology Surveillance Center in April 2015 developed a new diagnostic test called second generation Real Time-Quaking-Induced Conversion (RT-QuIC) which is very sensitive and specific for CJD. RT-QuIC can detect pathogenic prion protein in the cerebrospinal fluid of CJD patients with high accuracy. RT-QuIC directly detects the pathogenic prion protein, whereas the existing indirect markers of rapid neurodegeneration like protein 14-3-3 and tau proteins cannot do this.

A few studies have demonstrated modest sensitivity (>80%) but high specificity (approximately 98%) of CSF RT-QuIC for sCJD. Although it does not have as high sensitivity as MRI, it is often positive in many forms of genetic prion disease (gPrD), some of which usually do not show the classic MRI findings identified in most sporadic CJD cases. RT-QuIC in CSF is more specific than protein 14-3-3, probably NSE and t-tau also. RT-QuIC appears to be a highly specific test for human prion disease and might be more sensitive using olfactory epithelium (from nasal brushings) than CSF. Recent studies have shown that RT-QuIC technique is the most sensitive and specific diagnostic test that can replace brain biopsy for accurate diagnosis of CJD. Because RT-QulC is less invasive compared to brain biopsy, this should be the first test to do in the workup of a patient with suspected CJD. However, the existing CJD guidelines do not include newer less invasive diagnostic modalities, and probably need to be updated.

EEG is the least sensitive test compared to MRI brain or CSF studies, and typical periodic sharp wave complexes can be seen.

Brain tissue biopsy or postmortem exam of the brain confirms the diagnosis of CJD. However not all areas in the brain are affected with the disease, so the neurosurgeons target the areas that are abnormal on imaging studies which are most often in deep-seated subcortical structures. The surgery can be risky, and it may not always obtain the affected brain tissue. As the confirmatory diagnosis of CJD does not change the clinical outcome of the patient, a brain biopsy is only indicated when a reversible condition is suspected in the differential.

Few societies and organizations including CDC have proposed updated diagnostic criteria for CJD.

Figure 1 MRI-CJD Consortium criteria for sporadic Creutzfeldt–Jakob disease. 

Treatment / Management

There is no definitive treatment for CJD. The mainstay of treatment is symptomatic and supportive care. A few drug trials were done on CJD, but none of them have shown any clear benefit so far. More research is needed to find the treatment for this fatal condition.

Differential Diagnosis

Rapidly progressive dementia (RPD) has a broad differential including vascular, neurodegenerative, autoimmune, infectious, thromboembolic, metastasis/neoplasm, iatrogenic and toxic metabolic conditions. Vascular conditions like strokes or multiple infarcts or cerebral myeloid angioplasty or hypertensive encephalopathy can lead to rapidly progressive dementia. Vasculitis and intravascular lymphoma can also lead to rapidly progressive dementia. Brain MRI, as well as vascular imaging studies such as MRI angiography and CT angiography, can help diagnose vascular etiologies. Infectious causes like viral encephalitis including herpes simplex virus, HIV dementia, progressive multifocal leukoencephalopathy, fungal infections like central nervous system (CNS) aspergillosis, syphilis, Lyme disease, subacute sclerosing panencephalitis can cause rapidly progressive dementia. Appropriate blood and serological studies can help diagnose infectious causes of RPD. Neurodegenerative conditions like Creutzfeldt-Jakob disease (iatrogenic, familial), Alzheimer disease, dementia with Lewy bodies, progressive supranuclear palsy, corticobasal degeneration, neurofilament inclusion body disease, and progressive subcortical gliosis can also cause RPD.

Prognosis

Despite all the advances that helped in understanding this disease, the prognosis is extremely poor. CJD is invariably fatal. Death often occurs within 1 year of symptom onset.

Pearls and Other Issues

Creutzfeldt-Jakob disease (CJD) affects about 1 person in every 1 million individuals per year worldwide. Rapidly progressive dementias can occur due to neurodegenerative, toxic-metabolic, infectious, autoimmune or neoplastic etiologies, and extensive workup for reversible and treatable causes is needed. CJD and other prion diseases should be considered in the differential, during the workup of rapidly progressive ataxia or hemiparesis with cognitive deficit within weeks to months.[11]

Enhancing Healthcare Team Outcomes

The diagnosis and management of CJD is with a multidisciplinary team that includes a neurologist, pathologist, internist, ICU nurses and an intensivist. The disorder is very rare and is very rapidly progressive. Most of these patients need ICU admission but there is no specific treatment. Most patients are dead within a few weeks/months. Counseling of the family is important because no treatment works and death is inevitable.

 


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Creutzfeldt Jakob Disease - Questions

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What is the most common etiology of transmission of Creutzfeldt-Jakob disease?



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Which of the following is associated with a prion infection?



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Which of the following is a zoonosis mediated infection?



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Which of the following patients is most likely to have Creutzfeldt-Jakob disease?



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A woman in her 50s presents with a history of horizontal diplopia and some personality change. On examination, she is found to have an exaggerated startle response. Which of the following features would NOT be consistent with her suspected diagnosis?



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A 56 year old female develops ataxia, mild dementia, and startle myoclonus. MRI and CSF are normal. EEG shows repeated bursts of high voltage slow waves. The dementia rapidly progresses and there is profound dysarthria and general hypertonicity. The patient soon dies. What will be seen on autopsy?



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A 65 year old female presents with a 4 month history of memory loss, errors in judgment, and mood changes. She has had no incontinence, head trauma, or seizures. There is ataxia and Romberg is positive. All extremities show hypertonicity. There is myoclonus of both legs. Plantar response is equivocal bilaterally. CT and CSF are normal. By what mechanism is the infectious agent acting?



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A 45-year-old male has had rapidly developed dementia, memory loss, personality changes, and hallucinations over the past 6 months. The patient is eventually admitted to the hospital for being unable to stop shaking. After extensive unrevealing workup, the providers begin to suspect a misfolded protein build up to be the cause of the patient's symptoms. They return to an MRI scan obtained on the patient's admission that was previously thought to be unremarkable. Upon closer examination of this imaging, what finding is likely to be present to help confirm their suspicions about this patients disease?



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Select the finding not typical of variant Creutzfeldt-Jakob disease.



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Select the finding not seen with classic Creutzfeldt-Jakob disease.



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A 58-year-old female has rapid cognitive decline over 4 months. Initial testing does not provide a diagnosis. She develops myoclonus and right hemiparesis and dies 4 months later of aspiration pneumonia. What is the most likely diagnosis?



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A 48-year-old male has a 3-month history of blurry and double vision. He also shows unsteadiness of gait, decreased expressiveness, and deficiency of thought. His whole body spasms in response to loud noises. MRI and CSF are normal. What is the most likely diagnosis?



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What histological structure is associated with Creutzfeldt-Jacob disease?



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Creutzfeldt-Jakob disease is characterized by all of the following except which choice?



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Which of the following groups has been diagnosed with variant Creutzfeldt-Jakob disease?



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A male has rapidly progressive deficits in cortical dysfunction and startle myoclonus. Select the true statement.



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After a corneal transplant, a patient becomes demented and his family can no longer care for him. He demonstrates myoclonic jerks and ataxia. His EEG shows periodic bursts of electrical activity with background slowing. What is the diagnosis?



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Brain MRI on a patient (59 y/o female, DM) with 2-month hx of rapid cognitive decline and ataxia shows bilateral caudate and putaminal hyperintensity on both T2WI and DWI. Most likely, she suffers from:



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A 45-year old man is seen in the clinic with a 4-month history of progressive dementia, mental deterioration, unsteady gait, and personality changes. There is no other significant past medical history. Blood work and lumbar puncture appear normal. The most likely cause of his pathology is which one of the following?



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A 72-year-old female with past medical history of diabetes mellitus, hypertension, and coronary artery disease presented to the emergency department (ED) with sudden onset right-sided weakness, dysarthria, and right-sided ataxia for three days. MRI and MRA brain were nondiagnostic. She was diagnosed with MRI negative stroke and was discharged home with a cane after physical therapy. Ten days later, she presented to the ED with much worsening of right-sided weakness, bilateral ataxia, truncal titubation, and marked dysarthria. Repeat MRI and MRA brain were nondiagnostic. EEG was consistent with diffuse nonspecific cerebral dysfunction. The autoimmune panel, thyroid panel, hepatitis panel, routine cerebrospinal fluid (CSF) analysis, and other routine labs were normal. Whole body CT, mammogram, pelvic ultrasound were negative for malignancy. The second week into the hospital course, she developed myoclonic jerks in left limbs, worsening ataxia, dysphagia, dysarthria, rapidly declining mental status, memory and cognitive function. Repeat EEG showed worsening background activity and more pronounced slowing in the left hemisphere. Serum paraneoplastic antibody panel was negative, and CSF was positive for 14-3-3 protein. What is the most likely diagnosis?



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A 30-year-old neurosurgery resident was admitted to the emergency department with visual disturbances, confusion, and disorientation for nearly one week. The family reported that he had worsening fatigue, insomnia, and headache for the last few months. For the last two days, he started having involuntary jerky movements which are more pronounced. Routine blood work including complete blood count and complete metabolic panel were unremarkable. CT of the head was done in the which was unremarkable. He was afebrile, and urine toxicology screen was negative. Lumbar puncture was done, and cerebrospinal fluid studies (CSF) including cell count and differential, CSF protein, CSF glucose, CSF cultures, CSF oligoclonal bands were unremarkable. MRI brain was done which showed hyperintensity of the pulvinar relative to the anterior putamen suggesting “pulvinar” sign. CSF studies including 14–3–3 protein and total tau protein were elevated. He was diagnosed with Creutzfeldt-Jakob Disease (CJD). What is the most likely etiology?



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A 74-year-old male with prostate cancer, hypertension, diabetes mellitus, coronary artery disease, and congestive heart failure presented to the emergency room with memory problems. The family mentioned that for the last two months his memory had declined significantly to the point that he is unable to function normally. The family mentioned that he also developed gait imbalance, decreased vision for the last two months. On exam, the patient has dystonia, bradykinesia, rigidity, and myoclonus. CT head was unremarkable. Lumbar puncture was done, and cerebrospinal fluid studies (CSF) studies were unremarkable. He was suspected to have prion disease. Which of the following is the definitive diagnostic test for Creutzfeldt-Jakob disease (CJD)?



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A 65-year-old female with prior history of stage I breast carcinoma status post treatment currently in remission, peripheral vascular disease, coronary artery disease status post coronary artery bypass graft, hypertension presented to the emergency department with myoclonic jerks in left upper and lower extremity, ataxia, dysphagia, dysarthria, rapidly declining mental status, memory and cognitive function for the past few months. CT head was unremarkable. Brain MRI with T2-weighted, diffusion-weighted imaging (DWI) showed abnormalities in the cortical gray matter (cortical ribboning) and deep nuclei. EEG showed periodic sharp wave complexes. Lumbar puncture was done, and CSF 14–3–3 protein and total tau protein were elevated. The patient was diagnosed with sporadic Creutzfeldt-Jakob disease (CJD). What is the definitive treatment?



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What is the most common form of Creutzfeldt-Jakob (CJD) disease?



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Creutzfeldt Jakob Disease - References

References

Ishibashi D,Homma T,Nakagaki T,Fuse T,Sano K,Satoh K,Mori T,Atarashi R,Nishida N, Type I interferon protects neurons from prions in in vivo models. Brain : a journal of neurology. 2019 Feb 7;     [PubMed]
Gao LP,Shi Q,Xiao K,Wang J,Zhou W,Chen C,Dong XP, The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients. Scientific reports. 2019 Feb 12;     [PubMed]
Navid J,Day GS,Strain J,Perrin RJ,Bucelli RC,Dincer A,Wisch JK,Soleimani-Meigooni D,Morris JC,Benzinger TLS,Ances BM, The Structural Signature of Sporadic Creutzfeldt-Jakob Disease. European journal of neurology. 2019 Feb 8;     [PubMed]
Aslam S,Fritz MA,Cordes L,Sabbagh MN, What Promises the CJD Diagnosis in a Case of Rapidly Progressive Dementia? Journal of Alzheimer's disease     [PubMed]
Duyckaerts C,Clavaguera F,Potier MC, The prion-like propagation hypothesis in Alzheimer's and Parkinson's disease. Current opinion in neurology. 2019 Feb 4;     [PubMed]
Hayashi Y, Pathological and/or clinical work-up are required in atypical Creutzfeldt-Jakob disease cases with periodic lateralised epileptiform discharge. Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society. 2019 Feb 5;     [PubMed]
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