Creutzfeldt–Jakob disease

Abstract

Creutzfeldt-Jakob disease (CJD) is a progressive, degenerative, and fatal disease of the central nervous system. It is caused by abnormal accumulation of prion proteins and is characterized mainly by progressive dementia, myoclonus, and cerebellar, pyramidal, and extrapyramidal findings. Psychiatric symptoms may also accompany CJD and are often the first signs of the disease. The incidence of CJD is approximately 1 in 1 000 000. In certain cases, a diagnosis can be made by demonstrating the accumulation of pathological prion proteins. However, in many cultures brain biopsies or post-mortem evaluations are not welcomed by either the patients or their relatives. In these cases, the importance of additional diagnostic tools increases. Herein, we report on a CJD patient who first consulted a psychiatrist with early psychiatric symptoms. The patient developed neurological symptoms later and was subsequently diagnosed as sporadic CJD based on clinical and laboratory findings rather than brain biopsy. Repeated electroencephalograms (EEG) played a pivotal role in our evaluation of the patient. This case is an interesting presentation of CJD both because of the timing of the symptoms and because of the typical EEG findings that led to the diagnosis.

Appropriate Evaluation of Psychiatric Patients Highlighted by Creutzfeldt-Jakob Disease: A Case Report

“…5 The figure presents additional diagnostic detail regarding diagnostic criteria of CJD. 6 A variant clinical presentation of CJD is characterized by psychiatric symptoms at an earlier stage When evaluating a patient with rapidly progressive dementia, the work-up should include a complete blood count, comprehensive metabolic panel, thyroid function, and computed tomography of the brain. In consultation with neurology, other diagnostic studies may be warranted, including serology for neurosyphilis, paraneoplastic antibodies, or limbic encephalitis.…”

“…The mutation in the prion protein results in the production of protease-resistant prion proteins, which cause nerve damage resulting in a variety of clinical presentations of the disease. 6 For most patients diagnosed with CJD, rapid clinical progression from normal functioning to death occurs in approximately one year. 6 CJD is ultimately fatal in all cases.…”

“…6 For most patients diagnosed with CJD, rapid clinical progression from normal functioning to death occurs in approximately one year. 6 CJD is ultimately fatal in all cases. 6…”

Creutzfeldt-Jakob Disease

“…The clinical characteristics of the patient (acute onset of symptoms and characteristics, absence of a previous diagnosis of Parkinson's disease) tended to exclude other forms of dementia such as Alzheimer's disease, vascular dementia and Parkinson-dementia), while it was more difficult the exclusion of dementia with Lewy bodies (10) or Hashimoto's encephalopathy (although thyroid function was normal and there was the absence of antibodies anti-TPO) (11,12). For these reasons it was decided to prescribe to the patient an EEG and a brain MRI (13)(14)(15).…”

Prion Protein Signaling in the Nervous System—A Review and Perspective

“…162,163 In addition, PrP C -null mice show disrupted sleep patterns. Insomnia can be a symptom of TSE, 164 and the disease FFI is a prion disease. In the rat brain (suprachiasmatic nucleus (SCN), cingulate cortex, and parietal and piriform cortexes), mRNA of PrP C is regulated in a circadian rhythm, 162 not only in a light/dark cycle but also when kept in constant darkness.…”