ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2022
First familial cases of P102L Gerstmann-Sträussler-Scheinker syndrome in South Korea: diffusion-weighted imaging might reflect intrafamilial phenotypic variability.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 6 citations in OpenAlex.
- Review
- Expression of Toll-like receptors in the cerebellum during pathogenesis of prion disease.Frontiers in behavioral neuroscience · 2024Article
- Prion Mutations in Republic of Republic of Korea, China, and Japan.International journal of molecular sciences · 2022Review
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4 authors at 1 institution in 1 country.
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Abstract
introductionGerstmann-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. Previously affected family members were misdiagnosed with hereditary cerebellar ataxia. Two siblings (patients #1 and #2) of this family were genetically diagnosed with P102L mutation GSS. Another sibling (patient #3) was not genetically confirmed, but based on the clinical course and diffusion-weighted imaging (DWI), the diagnosis of GSS will be certain. Despite the same genetic mutation, these siblings showed different clinical phenotypes of GSS.
conclusionsWe genetically confirmed familial cases of GSS in South Korea. Although the disease is extremely rare, the PRNP gene test should be considered in undiagnosed autosomal dominant hereditary cerebellar ataxia. Phenotypical variability of GSS may be reflected in DWI of the early phase of the disease.
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