Patient with Gerstmann-Striussler-Scheinker syndrome (GSS P102L) presenting high intensity lesions in the cerebral cortex on diffusion weighted MRI

A 59-year-old woman with Gerstmann-Sträussler-Scheinker syndrome (GSS P102L) was reported. She slowly developed progressive gait disturbance and limb ataxia by the age of 58, subsequently followed by dementia and myoclonus. EEG showed periodic synchronous discharges, and MRI by diffusion weighted im...

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Bibliographic Details
Published inRinshō shinkeigaku Vol. 46; no. 4; p. 291
Main Authors Misumi, Misumi, Nishida, Yasuto, Araki, Shukuro
Format Journal Article
LanguageJapanese
Published Japan 01.04.2006
Subjects
Atrophy
Cerebral Cortex - pathology
Codon - genetics
Female
Gerstmann-Straussler-Scheinker Disease - diagnosis
Gerstmann-Straussler-Scheinker Disease - genetics
Gerstmann-Straussler-Scheinker Disease - pathology
Humans
Magnetic Resonance Imaging
Middle Aged
Mutation
Prions - genetics
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Summary:A 59-year-old woman with Gerstmann-Sträussler-Scheinker syndrome (GSS P102L) was reported. She slowly developed progressive gait disturbance and limb ataxia by the age of 58, subsequently followed by dementia and myoclonus. EEG showed periodic synchronous discharges, and MRI by diffusion weighted imaging revealed abnormal high signal intensity lesions in the bilateral cerebral cortex and basal ganglia. A prorin-for-leution substitution at codon 102 of the prion protein gene was demonstrated; and thus, she was diagnosed as GSS (P102L). This is a case of GSS presenting high intensity lesions in the cerebral cortex on diffusion weighted MRI; it suggests that MRI findings disease stages in GSS.
ISSN:0009-918X