Creutzfeldt-Jakob disease (CJD) is a rare and fatal neurodegenerative disorder characterized by the accumulation of abnormal prion proteins in the brain. It affects the central nervous system, causing a rapid deterioration of brain and motor functions. CJD can manifest itself in three forms: sporadic (no known cause), genetic (hereditary), and acquired (by exposure to contaminated material).
Symptoms of CJD include rapidly progressive dementia, behavioral changes, motor coordination difficulties, muscle spasms, and myoclonus. The disease usually leads to death within one to two years after the onset of symptoms.
The diagnosis of CJD is complex and involves clinical evaluation, imaging tests, such as magnetic resonance imaging, and laboratory tests for the detection of prion proteins in the cerebrospinal fluid. Currently, there is no cure for CJD, and treatment is directed at symptom relief and support for patients and families.
Research on CJD remains ongoing, focusing on developing therapies that can slow the progression of the disease or, ideally, cure it. Nanotechnology and artificial intelligence have been explored as promising tools for early diagnosis and the development of more effective treatments. Gene therapy has also been investigated as a possible approach to correct the genetic mutations responsible for the production of abnormal prion proteins (RODRIGUES; MOSQUER, 2020).
Refereencia:
RODRIGUES, Fabiano de Abreu Agrela; MOSQUER, Mariele Tatiane. Creutzfeldt Jakob disease (CJD). Pedagogical Notebook, v. 17, no. 1, pp. 49-62, 2020.
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