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Article

Serial changes in regional cerebral blood flow in Gerstmann-Sträussler-Scheinker disease caused by a Pro-to-Leu mutation at codon 105 in the prion protein gene.

Prion - 1 Dec 2023

Kawai Honami, Matsubayashi Taiki, Yokota Takanori, Sanjo Nobuo

Abstract excerpt

Gerstmann-Sträussler-Scheinker disease with a Pro-to-Leu substitution at codon 105 in the prion protein gene (GSS-P105L) is a rare variant of human genetic prion disease. Herein, we report the case of a patient with GSS-P105L, who showed serial changes in regional cerebral blood flow (rCBF) on single-photon emission computed tomography (SPECT). A 42-year-old woman, with an affected father presenting with similar...

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Identifiers

PMID: 37705331
DOI: 10.1080/19336896.2023.2256928
PMCID: PMC10503442

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