Rare Disease Highlight: Creutzfeldt-Jakob Disease

Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, transmissible, and invariably fatal neurodegenerative brain disorder affecting both humans and animals. CJD belongs to a family of prion diseases or transmissible spongiform encephalopathies (TSE) and was first described in 1920 by Hans Creutzfeldt, later in 1923 by Alfons Jakob ^1,2. The word “prion”, derived from proteinaceous infectious particle, was coined by Stanley B. Prusiner in 1982 after the discovery of the disease-associate protein ³. CJD is a very rare neurodegenerative disease with only 1,224 confirmed cases since 1979 in the US ⁴. Within a few months of infection, patients suffer from severe morbidities, including personality changes, cognitive impairment, uncontrollable muscle shaking, and lose the ability to move and speak, resulting in the death of the patient within one year of onset of illness ^1,4. There are no pharmacological or surgical options for treatment. Instead, patients with CJD  are usually managed in an intensive care unit to allow symptomatic and supportive care ¹. This leaves a significant unmet clinical need within these patients.

References

1. Sitammagari, K. K. & Masood, W. Creutzfeldt Jakob Disease. StatPearls (StatPearls Publishing, 2018).
2. Iwasaki, Y. Creutzfeldt-Jakob disease. Neuropathology 37, 174–188 (2017).
3. Mackenzie, G. & Will, R. Creutzfeldt-Jakob disease: recent developments. F1000Research 6, 2053 (2017).
4. CDC. Creutzfeldt-Jakob Disease. (2019). Available at: https://www.cdc.gov/prions/cjd/about.html. (Accessed: 20 February 2019)

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