What is Gerstmann-Straussler-Scheinker Syndrome
Synonyms: GSS syndrome, Gerstmann-Sträussler-Scheinker disease
English: Gerstmann – Sträussler – Scheinker syndrome
The Gerstmann-Sträussler-Scheinker syndrome, short GSSS or GSS, is a rare form of transmissible spongiform encephalopathy (TSE) with the formation of prions mainly in the cerebellum.
Together with Creutzfeldt-Jakob disease (CJD) and fatal familial insomnia (FFI), Gerstmann-Sträussler-Scheinker syndrome is counted among the human prion diseases.
The Gerstmann-Sträussler-Scheinker syndrome occurs worldwide and mainly affects people between the ages of 40 and 50. Women and men are affected roughly equally often.
The disease is inherited as an autosomal dominant trait and shows almost one hundred percent penetrance. The causes are multiple point mutations (typically P102L, P105L, P105T, A117V, Q145X, F198S and Q217R) as well as insertion mutations in the area of the octapeptide repeat site in the prion protein gene (PRNP gene) on chromosome 20. Depending on the location of the mutation, the clinical one varies Picture.
Prions are faulty proteins. There is a conformational change of the physiological protein PrPC. (Alpha-helix structure) to the pathological form PrPSc (Beta sheet structure). The change in the tertiary structure causes a chain reaction that leads to an accumulation and aggregation of the misfolded protein in the form of spongiform fibrils and amyloid plaques. In Gerstmann-Sträussler-Scheinker syndrome, these develop predominantly in a multicentric manner in the area of the cerebellum (spinocerebellar, corticospinal, posterior cords).
The aggregation of the prions also leads to the destruction of nerve cells and is the cause of the formation of "spongy" or holey brain tissue.
Initially, there are mostly cerebellar symptoms such as stance and gait ataxia. Later on, extremity ataxia, oculomotor disorders, dysarthria, bradykinesia, pyramidal tract signs and anterior horn cell involvement can also occur. Progressive dementia usually only shows up late. In addition, myoclonus, epileptic seizures, and blindness and deafness are rare.
The Gerstmann-Sträussler-Scheinker syndrome can primarily be identified by means of a genetic test for mutations in the PRNP gene differential diagnosis.
The suspected diagnosis is based on a positive family history and can also be supported by various methods. The CT is used to visualize protein deposits in the brain, while the MRI is used in the later stages to visualize structural changes. In addition, abnormal brain waves can be recorded using electroencephalography (EEG). Characteristic pathological proteins can be examined with the help of a CSF puncture.
Due to the lack of causal therapy, the Gerstmann-Sträussler-Scheinker syndrome cannot be cured. Symptomatic treatment is used to relieve symptoms and slow down the progressive course.
In order to maintain the quality of life, adequate care of the increasingly dependent patients is necessary.
In the context of the chronically progressive course of the disease, the average survival rate after diagnosis is around 5 years.
- A Hufschmidt, CH Lücking, S Rauer. Neurology compact. For clinic and practice. 8th edition, Thieme (2020)
- What are some interesting college farewell games
- Does Hinduism have any ethical content?
- How do people taste 2
- What is the google news website
- How is sustainable clothing made
- Did Jesus create the universe
- What is Samsung's DEX Function
- Is it a job to be a professional athlete?
- Why did Oldsmobile die
- How can I follow up on Instagram
- What do you call this architectural style
- How long do cardiac stents usually last?
- What is Biomedical Instrumentation Technology
- Can you get jobs with A-Levels
- What are the best songs by 2NE1
- Should I lift for strength or size
- What Are Some Good Cuban Movies
- Are psychological assessments con
- What gives wood its color
- Are there frets on a cello
- Can you fake a DNA test?
- Artificial intelligence creates value
- Chinese really hate Japanese
- How do teachers with ADD deal with learners
- What are some paintings with cultural significance
- How many hours can a person study
- How does Fwix get data from Twitter
- Which body rules the sham process at college?
- The term study hour is superfluous
- Is psoriasis curable? If so, how
- Which has more jobs Tableau or QlikView
- Joe Cocker only did cover songs
- Why won't she let me go
- What is logic and who decides about reason