Medical history (history of illness) represents an important component in the diagnosis of Creutzfeldt-Jakob disease. Family history Is there a family history of dementia that is common in your family? Are there any hereditary diseases in your family? Social anamnesis Current medical history/systemic medical history (somatic and psychological complaints). Have you noticed any memory disturbances … Creutzfeldt-Jakob Disease: Medical History
Endocrine, nutritional, and metabolic diseases (E00-E90). Hashimoto’s encephalopathy – form of brain abnormality caused by thyroid hormones. Neuronal ceroid lipofuscinoses (NCL or CLN) – group of rare, autosomal recessive inherited metabolic diseases of childhood that causes seizures, movement disorders, and other neurological disorders. Cardiovascular System (I00-I99). Vasculitis (vascular inflammation) Infectious and parasitic diseases (A00-B99). HIV … Creutzfeldt-Jakob Disease: Or something else? Differential Diagnosis
Consequential diseases or complications caused by Creutzfeldt-Jakob disease include insomnia (sleep disorder). The disease is fatal within a few months.
Creutzfeldt-Jakob disease can be classified as follows: Sporadic prion disease like CJD. Genetic prion disease such as premilar CJD, Gerstman-Sträussler-Scheinker syndrome, lethal familial insomnia Transmitted prion disease such as iatrogenic CJD or new variant CJD.
A comprehensive clinical examination is the basis for selecting further diagnostic steps: General physical examination – including blood pressure, pulse, body weight, height; further: Inspection (viewing). Skin, mucous membranes, and sclerae (white part of the eye) [tremor (muscle tremors); myoclonus (involuntary muscle twitching); paralysis; incoordination] Inspection (viewing) and palpation (palpation) of the thyroid gland [due … Creutzfeldt-Jakob Disease: Examination
1st order laboratory parameters – obligatory laboratory tests. Cerebrospinal fluid (CSF) puncture (collection of cerebrospinal fluid by puncturing the spinal canal) for CSF diagnosis – can be determined by the detection of Proteins: 14-3-3, tau, NSE, or S100b. RT-QuIC [“real-time quaking-induced conversion”] to detect increased aggregation propensity of PrP [prion protein]) [safe clinical diagnosis according … Creutzfeldt-Jakob Disease: Test and Diagnosis
Therapeutic targets Relief of symptoms Attempt to delay the progression of the disease Therapy recommendations A causal therapy does not exist to date. The following drugs are being used in trials: Benzodiazepines such as clonazepam or antiepileptic drugs such as valproate for myclonias (muscle twitching); good response, especially in the initial phase of disease Flupirtine* … Creutzfeldt-Jakob Disease: Drug Therapy
Obligatory medical device diagnostics. Encephalogram (EEG; recording of brain electrical activity) – should be used as a basic diagnostic; changes can be seen in approximately 70% of sporadic cases Computed tomography/magnetic resonance imaging of the skull (cranial CT or.cCT/cranial MRI or cMRI) – can secure pathological signs (cortical atrophy; spondiform changes) in more than two-thirds … Creutzfeldt-Jakob Disease: Diagnostic Tests
To prevent new variant Creutzfeldt-Jakob disease, attention must be paid to reducing risk factors. Behavioral risk factors Ingestion of infected food-beef and beef derived products. Prevention factors Genetic factors: Genetic risk reduction depending on gene polymorphisms: Genes/SNPs (single nucleotide polymorphism): Gene: PRNP SNP: rs1799990 in gene PRNP Allele constellation: AA (getting nvCJD is possible) (40% … Creutzfeldt-Jakob Disease: Prevention
The following symptoms and complaints may indicate Creutzfeldt-Jakob disease and new variant CJD: Leading symptoms Aggressiveness Akinetic mutism – inhibition of all motor functions including speech. Ataxia – disturbance in the sequence of movement Chorea – involuntary rapid sweeping movements. Dementia (rapid and progressive). Depression Fasciculations (irregular and involuntary contractions of muscle fiber bundles). Memory … Creutzfeldt-Jakob Disease: Symptoms, Complaints, Signs
Pathogenesis (disease development) According to the prion hypothesis, the prion is thought to arise from an infectious form of a misfolded protein. It is expressed primarily cells of the nervous system. The propagation of prions occurs by transforming the anti-helix structure of the proteins. The change in structure results in the formation of amyloid plaques … Creutzfeldt-Jakob Disease: Causes
General measures Observance of the general hygiene measures! Nicotine restriction (refrain from tobacco use). Alcohol restriction (abstaining from alcohol) Nutritional medicine Nutritional counseling based on nutritional analysis Nutritional recommendations according to a mixed diet taking into account the disease at hand. This means, among other things: A total of 5 servings of fresh vegetables and … Creutzfeldt-Jakob Disease: Therapy
