Gerstmann-Straussler-Scheinker disease (GSSD) is a rare type of transmissible spongiform encephalopathy. It manifests with dementia and/or ataxia and is due to a mutation in the prion protein (PRNP) gene, which is inherited in an autosomal dominant pattern.
On this page:
Clinical presentation
GSSD is characterized by prominent cerebellar signs, particularly truncal ataxia, followed a few years later by gradual dementia 7,8. Additionally, movement disorders, including myoclonus and athetosis, may be present 8.
Radiographic features
MRI
Imaging appearances are variable and depend on the duration of symptoms.
Initially imaging is normal. This is followed by gradual cerebellar and cerebral volume loss. This is the most common finding and is non-specific 7-9.
In only a minority of patients, a high DWI signal is encountered in the basal ganglia, similar to CJD 7-9.
History and etymology
It is named after the Austrian-American neuropsychiatrist Josef Gerstmann (1887-1969) 6, also of Gerstmann syndrome fame, Austrian neuropathologist Ernst Sträussler (1872-1959) 4, and Austrian-American neuropathologist Ilya Mark Scheinker (1902-1954) 5.
Unable to process the form. Check for errors and try again.