Gerstmann-Sträussler-Scheinker syndrome
| Classification according to ICD-10 | |
|---|---|
| A81.9 | Central Nervous System Prion Disease NOS |
| ICD-10 online (WHO version 2019) | |
The Gerstmann-Sträussler-Scheinker syndrome (GSSS) (also Gerstmann-Straussler disease or Gerstmann-Straussler Syndrome ) is a transmissible spongiform encephalopathy caused by prions is caused; it thus resembles Creutzfeldt-Jakob disease .
overview
It is based on a dominantly inherited mutation in the prion protein (PRNP) gene, mostly in codon 102, which has a prevalence of approx. 1: 10,000,000. The PRNP gene is located on the short arm of chromosome 20 , code: 20pter-p12. This genetic defect leads to the formation of a defective protein which then has serine at position 198 instead of the amino acid phenylalanine (F198S); this protein is then mainly deposited in the cerebellum in the form of amyloid plaques . This leads to the symptoms of ataxia (inability to carry out specific movements in a straight line), dysarthria (slurred speech based on a central paralysis of the speech muscles involved in articulation) and nystagmus (uncontrollable trembling of the eyes ). Later on, dementia can develop. The disease usually leads to death within one to eleven years after the outbreak .
Other forms of transmissible spongiform encephalopathy (TSE) include Creutzfeldt-Jakob disease , kuru and fatal familial insomnia (FFI) in humans , BSE in cattle, and scrapie in sheep .
The disease is named after its discoverers, Josef Gerstmann and his colleagues Ernst Sträussler and Ilja Scheinker .
Transmissible spongiform encephalopathies are in Austria in accordance with § 1 para. 1, point 1 Epidemics Act 1950 on suspicion, illness and death notifiable . Doctors and laboratories, among others, are obliged to report this ( Section 3 Epidemics Act).
In Germany, human spongiform encephalopathy (except for familial hereditary forms) is subject to notification by name in the event of suspicion, illness and death by the doctor etc. in accordance with Section 6 of the Infection Protection Act (IfSG) . The group of reporting persons is based on § 8 IfSG, what has to be reported according to § 9 IfSG.
