TY - JOUR
T1 - A Japanese family with a variant of Gerstmann-Sträussler-Scheinker disease
AU - Tanaka, Yutaka
AU - Minematsu, Kazuo
AU - Moriyasu, Hideki
AU - Yamaguchi, Takenori
AU - Yutani, Chikao
AU - Kitamoto, Tetsuyuki
AU - Furukawa, Hisako
N1 - Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 1997/5
Y1 - 1997/5
N2 - Objective - A new variant of Gerstmann-Sträussler-Scheinker disease (GSS) was reported, which had a substitution of glutamate to lysine at codon 219 (E219K) in addition to a P102L mutation on the same allele of the PrP gene. However, clinical features were not detailed and pathological studies were not done. Unusual clinical, neuroradiological, and pathological findings are reported for these patients. Methods and results - Clinical presentations of the patients in the same family were variable; progressive dementia with minimal ataxia in some patients but ataxia without dementia in others. PET studies with 18F-2-fluoro-2-deoxyglucose (FDG) disclosed a relative decrease of FDG uptake in bilateral temporoparietal cortices of a patient with dementia, but in the cerebellar cortices in a patient with ataxia. At necropsy, a patient with dementia had multicentric and diffuse plaques stained with PrP antiserum, but not with haematoxylin and eosin or Congo red, in the cerebral and cerebellar cortices. Conclusion - Neurological and neuropathological features in the patients were atypical of the classic form of GSS with P102L mutation. The absence of Congo red staining prion protein plaques is probably attributable to E219K polymorphism on the same allele of the PrP gene.
AB - Objective - A new variant of Gerstmann-Sträussler-Scheinker disease (GSS) was reported, which had a substitution of glutamate to lysine at codon 219 (E219K) in addition to a P102L mutation on the same allele of the PrP gene. However, clinical features were not detailed and pathological studies were not done. Unusual clinical, neuroradiological, and pathological findings are reported for these patients. Methods and results - Clinical presentations of the patients in the same family were variable; progressive dementia with minimal ataxia in some patients but ataxia without dementia in others. PET studies with 18F-2-fluoro-2-deoxyglucose (FDG) disclosed a relative decrease of FDG uptake in bilateral temporoparietal cortices of a patient with dementia, but in the cerebellar cortices in a patient with ataxia. At necropsy, a patient with dementia had multicentric and diffuse plaques stained with PrP antiserum, but not with haematoxylin and eosin or Congo red, in the cerebral and cerebellar cortices. Conclusion - Neurological and neuropathological features in the patients were atypical of the classic form of GSS with P102L mutation. The absence of Congo red staining prion protein plaques is probably attributable to E219K polymorphism on the same allele of the PrP gene.
KW - Ataxia
KW - Dementia
KW - Gerstmann-Sträussler-Scheinker disease
KW - Prion protein
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U2 - 10.1136/jnnp.62.5.454
DO - 10.1136/jnnp.62.5.454
M3 - Article
C2 - 9153600
AN - SCOPUS:0030925860
VL - 62
SP - 454
EP - 457
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
SN - 0022-3050
IS - 5
ER -