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PRION DISEASE
Dr. Nani Kurniani, SpS(K)

INTRODUCTION
The

word prion, coined in 1982 by Stanley B. Prusiner, is derived from the words protein and infection. diseases or transmissible spongiform encephalopathies (TSEs) are a family of rare progressive neurodegenerative disorders. both humans and animals.

Prion

Affect Long

incubation period

Spongiform

changes wi/ neuronal loss; amyloid plaque, gliosis

Prions

propagate by transmitting a misfolded protein state. The protein is isoform of a normal cell protein, found most in the brain. a prion enters a healthy organism, it induces existing, properly folded proteins to convert into the disease-associated, prion form; the prion acts as a template to guide the misfolding of more proteins into prion form.

When

The

functions of these normal prion proteins are still not completely understood.
altered structure is extremely stable and accumulates in infected tissue, causing tissue damage and cell death; leads to characteristic signs and symptoms of the disease. diseases are usually rapidly progressive and always fatal.

This

Prion

Characteristics

No inflammatory response No visible virion-like structures by electron microscopy

No interferon production; No interferon sensitivity

No antigenicity Varying individual susceptibility to high infecting dose in some host species; Unpredictable ability to cross species lines

Human Prion Disease

Creutzfeldt-Jakob Disease (CJD)

Variant Creutzfeldt-Jakob Disease (vCJD) Gerstmann-Straussler-Scheinker Syndrome

Fatal Familial Insomnia

Kuru In animal the most popular prion disease is BSE (Bovine Spongiform Encephalopathy)= Mad cow disease

Creutzfeldt-Jakob Disease (CJD)

Acquired, Familial, and Sporadic

Progressive dementia, tremors, spasticity, ataxia, and possibly myoclonus. One case/1 million population per year. Male=Female; onset between 55-75 y.o (Older in Male)(mean: 61.5 years) Consumption of meat and other organs, including animal brain, liver, and kidney, and exposure to blood and blood products have been examined as possible sources of infection in sporadic CJD patients.

Gerstmann-Straussler-Scheinker Syndrome

It is named after Josef Gerstmann, Ernst Strussler and Ilya Scheinker

very rare, usually familial (autosomal dominant inheritance), 20 to 60 years in age. The exact incidence of GSS is unknown but is estimated to be between 1 to 10 per 100 million. A change in codon 102 from proline to leucine on chromosome 20, has been found in the prion protein gene (PRNP) of most affected individuals. Therefore, it appears this genetic change is usually required for the development of the disease.

Kuru

Disease of New Guinea natives

Discovered by D. C. Gajdusek in 1957 100% mortality Experimentally transmitted to chimpanzees Transmitted by ritual cannibalism Many aspects of the disease mimic Creutzfeld-Jacob Disease

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