Optic nerve atrophy and visual disturbance following PRNP Y162X truncation mutation

Kosuke Matsuzono,Younhee Kim,Hiroyuki Honda,Yuhei Anan,Yuto Hashimoto,Ichiya Sano,Toru Iwaki,Tetsuyuki Kitamoto,Shigeru Fujimoto

Journal of the Neurological Sciences（2021）

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摘要

•We report a case of visual disturbance and optic atrophy linked to the PRNP mutation.•Characteristic visual disturbance with optic atrophy occurred in this PRNP Y162X mutation case.•It is possible that optic atrophy is a unique phenotype for the PRNP mutation.

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关键词

PRNP,Prion,Optic atrophy,Autonomic,Visual disturbance

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