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Article

Involvement of the nigrostriatal system in Gerstman-Sträussler-Scheinker disease with the PRNP-P102L mutation.

Journal of the neurological sciences - 15 Sept 2024

Ono Natsuki, Suzuyama Kohei, Minagawa Hiromu, Uwatoko Kiku, Yoshikawa Masaaki, Ide Toshihiro, Mitsuoka Miyuki, Honda Kazuo, Hirai Tetsuyoshi, Otsuka Takateru, Kai Keita, Honda Hiroyuki, Kitamoto Tetsuyuki, Irie Hiroyuki, Yukitake Motohiro, Koike Haruki

Abstract excerpt

INTRODUCTION: Gerstmann-Sträussler-Scheinker disease (GSS) is an autosomal-dominant inherited prion disease most often associated with the human prion protein gene (PRNP)-P102L mutation. Although patients manifest considerable phenotypic heterogeneity, the involvement of the nigrostriatal system has not been well-studied. METHODS: We performed dopamine transporter single-photon emission computed tomography...

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PMID: 39128159
DOI: 10.1016/j.jns.2024.123166

Genes

PRNP
GSS

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