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).(1-4) Here, we describe the clinical phenotype and the results of neuroradiologic and laboratory investigations in an Italian patient carrying this genetic variant.
Gerstmann-Straüssler-Scheinker disease (PRNP p.D202N) presenting with atypical parkinsonism / Baiardi S.; Rizzi R.; Capellari S.; Bartoletti-Stella A.; Zangrandi A.; Gasparini F.; Ghidoni E.; Parchi P.. - In: NEUROLOGY. GENETICS. - ISSN 2376-7839. - ELETTRONICO. - 6:2(2020), pp. e400.1-e400.5. [10.1212/NXG.0000000000000400]
Gerstmann-Straüssler-Scheinker disease (PRNP p.D202N) presenting with atypical parkinsonism
Baiardi S.;Capellari S.;Parchi P.
2020
Abstract
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).(1-4) Here, we describe the clinical phenotype and the results of neuroradiologic and laboratory investigations in an Italian patient carrying this genetic variant.| File | Dimensione | Formato | |
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2020 Baiardi GSS D202N Neurol Genet.pdf
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