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Neuropathological features of a case with schizophrenia and prion protein gene P102L mutation before onset of Gerstmann-Sträussler-Scheinker disease

✍ Scribed by Kensuke Sasaki; Katsumi Doh-ura; Akiko Furuta; Sachi Nakashima; Yumi Morisada; Jun Tateishi; Toru Iwaki

Publisher: Springer-Verlag
Year: 2003
Tongue: English
Weight: 455 KB
Volume: 106
Category: Article
ISSN: 0001-6322
DOI: 10.1007/s00401-003-0697-y

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## Abstract Ataxia is a frequently reported symptom in prion diseases (PD) and it is characteristic of Gerstmann‐Sträussler‐Scheinker syndrome (GSS), a genetic PD mainly related to the P102L mutation in the __PRNP__ gene. Our aim was to screen for the P102L and other six known __PRNP__ gene mutatio