Seon-Jae Ahn1,2, Han Sang Lee1,2, Jangsup Moon3,2, Kon Chu4. 1. Center for Hospital Medicine, Seoul National University Hospital, Seoul, South Korea. 2. Department of Neurology, Comprehensive Epilepsy Center, Seoul National University Hospital, College of Medicine, Seoul National University, 101, Daehangno, Jongno-gu, Seoul, 110-744, South Korea. 3. Department of Genomic Medicine, Seoul National University Hospital, Seoul, South Korea. 4. Department of Neurology, Comprehensive Epilepsy Center, Seoul National University Hospital, College of Medicine, Seoul National University, 101, Daehangno, Jongno-gu, Seoul, 110-744, South Korea. stemcell.snu@gmail.com.
Abstract
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. 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. CONCLUSIONS: We 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.
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. 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. CONCLUSIONS: We 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.
Authors: K Hsiao; H F Baker; T J Crow; M Poulter; F Owen; J D Terwilliger; D Westaway; J Ott; S B Prusiner Journal: Nature Date: 1989-03-23 Impact factor: 49.962
Authors: D N Manners; P Parchi; C Tonon; S Capellari; R Strammiello; C Testa; G Tani; E Malucelli; C Spagnolo; P Cortelli; P Montagna; R Lodi; B Barbiroli Journal: Neurology Date: 2009-04-21 Impact factor: 9.910
Authors: J A Hainfellner; S Brantner-Inthaler; L Cervenáková; P Brown; T Kitamoto; J Tateishi; H Diringer; P P Liberski; H Regele; M Feucht Journal: Brain Pathol Date: 1995-07 Impact factor: 6.508
Authors: P Piccardo; S R Dlouhy; P M Lievens; K Young; T D Bird; D Nochlin; D W Dickson; H V Vinters; T R Zimmerman; I R Mackenzie; S J Kish; L C Ang; C De Carli; M Pocchiari; P Brown; C J Gibbs; D C Gajdusek; O Bugiani; J Ironside; F Tagliavini; B Ghetti Journal: J Neuropathol Exp Neurol Date: 1998-10 Impact factor: 3.685
Authors: P Parchi; S G Chen; P Brown; W Zou; S Capellari; H Budka; J Hainfellner; P F Reyes; G T Golden; J J Hauw; D C Gajdusek; P Gambetti Journal: Proc Natl Acad Sci U S A Date: 1998-07-07 Impact factor: 11.205