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Article

First familial cases of P102L Gerstmann-Sträussler-Scheinker syndrome in South Korea: diffusion-weighted imaging might reflect intrafamilial phenotypic variability.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 May 2022

Ahn Seon-Jae, Lee Han Sang, Moon Jangsup, Chu Kon

Abstract excerpt

INTRODUCTION: Gerstmann-Sträussler-Scheinker disease (GSS) is a rare genetic prion disease. Unlike sporadic Creutzfeldt-Jakob disease, GSS has diverse clinical phenotypes, including slowly progressive cerebellar ataxia. Due to this clinical feature and the extreme rarity of GSS, the disease can be misdiagnosed as hereditary cerebellar ataxia. CASE REPORT: We present the first familial cases of GSS in South Korea....

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PMID: 35129726
DOI: 10.1007/s10072-022-05927-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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