Gerstmann-Sträussler-Scheinker disease (PRNP p.D202N) presenting with atypical parkinsonism
2020
The p.D202N mutation in PRNP is a rare variant associated with Gerstmann-Straussler-Scheinker disease (GSS), a genetic form of prion cerebral amyloidosis. To date, there have been only 4 reports of this mutation worldwide and only one detailed clinical study (table e-1, [links.lww.com/NXG/A223][1]).1–4 Here, we describe the clinical phenotype and the results of neuroradiologic and laboratory investigations in an Italian patient carrying this genetic variant.
[1]: http://links.lww.com/NXG/A223
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