August 7, 2014
Gerstmann-Straussler-Schenker syndrome (GSS) is a rare prion disease, occurring at an incidence of 1-10 cases per 100 million per year. It is inherited in an autosomal dominant pattern with virtually complete penetrance (1). Hallmarks of this disease include progressive cerebellar degeneration accompanied by a dementing picture. Unlike Creutzfeldt Jacob Disease (CJD) myoclonus is typically not present (1, 2). Labs and/or imaging are usually non-revealing, and EEG may show slowing but does not typically show the periodic sharp wave complexes characteristic of sporadic CJD. GSS displays neuropathological features consistent with other forms of prion disease such as multicentric plaques with radiating spicules and microglial changes; they stain for prion protein scrapie isoform and are periodic acid schiff stain positive. Neurofibrillary tangles and neuropil threads may be seen (2). There is no treatment for GSS which is ultimately fatal.
- Arata H, Takashima H, Hirano R, et al. Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu). Neurology 2006; 66:1672.
- Johnson RT, Gibbs CJ Jr. Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies. N Engl J Med 1998; 339:1994
Submitted by: Mohamed-Ali Babi, MD, Department of Neurological Sciences, University of Vermont College of Medicine, Burlington, Vermont
Disclosures: Dr. Babi reports no disclosures