Zusammenfassung In der Psychiatrie kommt es aufgrund fortschreitenden medizinischen Diagnostik zunehmend zur Vorstellung von Patienten mit genetischen Befunden, als Beispiele seien hier genannt und kurz beschrieben: die TLK2-Mutation (Tousled-Like-Kinase-2), Morbus Canavan, familiäre Creutzfeldt-Jakob-Krankheit (CJK), das Prader-Willi-Syndrom (Mikrodeletionssyndrom am Chromosom 15) Pätau-Syndro...

Creutzfeldt-Jakob disease is a rare type of spongiform encephalopathy. Affected patients present with constitutional symptoms, which progress to severe mental deterioration and movement disorders. Dizziness is the most common early otologic symptom. Few reports in the literature describe patients with Creutzfeldt-Jakob disease who present with sudden-onset hearing loss as their primary symptom ...

We report the mortality from sporadic Creutzfeldt-Jakob disease in Cyprus for a 10-year surveillance period (1995-2004). In that time, 5 cases were identified out of a population of 749,000, giving an incidence of 0.7 cases per million population per year. Our sporadic incidence matches that expected according to global epidemiological surveillance. No cases of variant Creutzfeldt-Jakob disease...

A 68 year old woman with sporadic Creutzfeldt-Jakob disease is described, who neither showed characteristic EEG abnormalities nor a positive test of the neuronal protein 14-3-3 or neuron specific enolase (NSE) in CSF, despite a clinical presentation with ataxia of cerebellar type, rapidly progressive dementia, myoclonus, and marked hyperintense signal abnormalities in the deep cortical layers a...

Creutzfeldt-Jacob disease is a rare and fatal prion disease comprised of four variants: familial, sporadic, variant, and iatrogenic. Classic presenting symptoms include a rapidly progressive dementia, myoclonus, and ataxia. Misdiagnosis often occurs due to the neuropsychiatric phenotypic variability of CJD. Psychiatric manifestations across all four types of CJD are now increasingly being recog...

Since the early 1980s close contact with animals or animal products infected with bovine spongiform encephalopathy has posed a putative risk of infection with Creutzfeldt-Jakob disease. Several groups with potentially high exposure have already been identified. To study whether transmissible spongiform encephalopathy has had any effect on people working in animal husbandry and slaughter, we use...

Background. Creutzfeldt-Jakob disease is a rare disorder of the central nervous system. Its initial diagnosis may be obscured by its variable presentation. This case report illustrates the complexity of diagnosing this disease early in the clinical course, especially when the initial symptoms may be psychiatric. It offers a brief review of the literature and reinforces a role for consultation p...

New variant Creutzfeldt-Jakob disease may be associated with exposure to the causative agent of bovine spongiform encephalopathy. Currently, a reliable diagnosis is possible only after neuropathological examination of the brain, which is risky for patients and diagnosticians. The sensitivity and specificity of recently developed techniques are not known for new variant Creutzfeldt-Jakob disease...

The case of a young man who had previously received pituitary derived growth hormone for treatment of radiation induced growth hormone deficiency is reported. He underwent neurosurgery for presumed recurrence of a posterior fossa tumour but was subsequently shown to have Creutzfeldt-Jakob disease, confirmed on necropsy. The risk of transmission of Creutzfeldt-Jakob disease by neurosurgical inst...

Variant Creutzfeldt-Jakob disease is almost certainly caused by the bovine spongiform encephalopathy agent, and although the disease is rare (115 deaths to date) there is uncertainty about future numbers of cases. The lack of a conventional immune response and the inability to detect abnormal prion protein in blood has hampered the development of a blood test. Lymphoreticular accumulation of pr...