Diseases and Disorders

Creutzfeldt-Jakob Disease

Priya Vijayakumar


    Discovered in the 1920s by German scientists Hans Gerhard Creutzfeldt and Alphons Maria Jakob, Creutzfeldt-Jakob disease (CJD), or Spongiform Encephalopathy, is a neurodegenerative disorder that causes physical changes in the brain’s spongiform tissue (BSE Info, 2016). With the annual incidence of one in a million, CJD is a rare disorder that exists in three broad forms: sporadic, familial, and acquired. Sporadic CJD affects patients, on average, at the age of 65 and is triggered by unknown factors. (Creutzfeldt-Jakob Disease n.d.; The Creutzfeldt-Jakob Disease Foundation n.d.).

    The sporadic type accounts for 85% of all CJD cases and is suggested to involve infectious prion proteins that interrupt normal brain protein function and neuronal connections (BSE Info 2016; Creutzfeldt-Jakob Disease n.d.; Creutzfeldt-Jakob Disease 2016). Familial CJD occurs when a mutated prion protein gene is inherited. In the United States, approximately five to fifteen percent of CJD cases are familial. Acquired CJD is obtained from environmental factors such as the consumption of infected meat from a cow with Bovine Spongiform Encephalopathy, more commonly recognized as Mad Cow Disease, or contamination during medical procedures such as blood transfusions or general surgeries (BSE Info 2016).

 

Diagnosis and Notable Features

    CJD is clinically identified through motor system examinations, blood tests, CT scans and MRIs of the brain, EEGs, and spinal taps. Noting abnormal lapses in cognitive behavior can also serve to identify the presence of CJD (UCSF Memory and Aging Center n.d.).

    Because of its lengthy incubation period, CJD can remain in patients for a long time without being recognized.  After initially contracting CJD, patients may experience cold-like symptoms. The severe effects of CJD do not become apparent until many years, even a decade, after initial contraction. Personality changes such as the development of anxiety, depression or amnesia occur earlier on in the disease process and progress into severe dementia in the long-term (UCSF Memory and Aging Center n.d.). Eventually, patients have difficulty with higher-level cognitive functions such as thinking, organizing, and planning. Patients may also struggle to walk due to the loss of coordination and balance as well as muscle stiffness, twitching, or jerkiness (Creutzfeldt-Jakob Disease 2016; UCSF Memory and Aging Center n.d.). On top of the shared characteristics listed above, the features of CJD vary based on the form of the neurodegenerative disorder. For example, later stages of sporadic CJD are accompanied by hallucinations, blindness, muscle rigidity, slurred speech, difficulties in swallowing, and Akinetic Mutism, a disorder in which the patient can no longer speak or move (BSE Info 2016). After initial detection of CJD due to apparent cognitive and physical declines, patients face an average life expectancy of a mere 12 months and often fall into a coma before dying (UCSF Memory and Aging Center n.d.).  

 

Treatment Options

    Currently, there is no cure for CJD, but there are still therapeutic treatments that help patients ease their symptoms. Selective Serotonin Reuptake Inhibitors (SSRIs), including citalopram and escitalopram, are effective in treating depression resulting from CJD. For cases of severe muscle jerkiness and seizures, clonazepam and anti-epileptic drugs such as valproic acid respectively have also proven to be useful. Atypical antipsychotic medication is also recommended for CJD patients who experience visual hallucinations. Although sufficient treatment does not exist to stop the progression of CJD, ongoing research holds hope in understanding the neuropathology behind CJD and thereby developing more effective therapies (UCSF Memory and Aging Center n.d.). Aside from medication, family counseling can also play a pivotal role in treating the behavioral symptoms of CJD and the toll it has on the patient and his or her family.

 

Prevention and Control

    As the triggers of sporadic CJD are unknown,  many preventative measures do not exist. Although there are no proven cases of the transmission of CJD through airborne means or casual contact, blood transmission devices and other vital surgical utensils should be adequately sterilized to prevent the accidental transmission of CJD. For familial CJD, if the gene causing the development of prions is identified through genetic testing, therapeutic abortions can prevent the inheritance of CJD (BSE Info 2016; The Creutzfeldt-Jakob Disease Foundation n.d.).

 

Key Terms

Atypical antipsychotic medication - A group of antipsychotic medication that treats psychiatric conditions such as schizophrenia, bipolar disorder, and various types of psychoses.


References


  1. UCSF Memory and Aging Center. (2016). Creutzfeldt-Jakob Disease (CJD). Retrieved June 17, 2016, from http://memory.ucsf.edu/cjd/overview/symptoms

  2. The Creutzfeldt-Jakob Disease Foundation. (n.d.). Creutzfeldt-Jakob Disease and other Prion Diseases [PDF]. The Creutzfeldt-Jakob Disease Foundation, Inc.

  3. Creutzfeldt-Jakob Disease. (n.d.). Retrieved June 17, 2016, from http://umm.edu/health/medical/ency/articles/creutzfeldtjakob-disease

  4. BSE Info - CJD. (2016). Retrieved June 17, 2016, from http://www.bseinfo.org/cjd.aspx Creutzfeldt-Jakob Disease. (2016). Retrieved June 17, 2016, from http://www.alz.org/dementia/creutzfeldt-jakob-disease-cjd-symptoms.asp

Priya Vijayakumar

Priya Vijayakumar


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