09-02-2021-1043 - Gerstmann–Sträussler–Scheinker syndrome (GSS) neurology disease neurodegenerative autosomal-dominant inheritance white matter degeneration interspace degeneration interspace Nat skeleton brain cerebrum

Gerstmann–Sträussler–Scheinker syndrome(GSS) is an extremely rare, usually familial, fatal neurodegenerative disease that affects patients from 20 to 60 years in age. It is exclusively heritable, and is found in only a few families all over the world.^[1] It is, however, classified with the transmissible spongiform encephalopathies(TSE) due to the causative role played by PRNP, the human prion protein.^[2] GSS was first reported by the Austrian physicians Josef Gerstmann, Ernst Sträussler and Ilya Scheinkerin 1936.^[3][4]

Familial cases are associated with autosomal-dominant inheritance.^[5]

Certain symptoms are common to GSS, such as progressive ataxia, pyramidal signs, and even adult-onset dementia; they progress more as the disease progresses.^[6] 

Gerstmann–Sträussler–Scheinker syndromeA person with inherited prion disease has cerebellar atrophy. This is highly typical of GSS.SpecialtyNeurology Symptomsdifficulty speaking, developing dementia, memory loss, vision loss.CausesprionPrognosis(AVERAGE) 5-6 years from diagnosis

GSS is part of a group of diseases called transmissible spongiform encephalopathies. These diseases are caused by prions, which are a class of pathogenic proteins that are resistant to proteases. These prions then form clusters in the brain, which are responsible for the neurodegenerative effects seen in patients.^[10]

The P102L mutation, which causes a substitution of proline to a leucine in codon 102, has been found in the prion protein gene (PRNP, on chromosome 20) of most affected individuals.^[11] Therefore, it appears this genetic change is usually required for the development of the disease.^[12][13][14]

https://en.wikipedia.org/wiki/Gerstmann–Sträussler–Scheinker_syndrome