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  • Title: [Patient with Gerstmann-Striussler-Scheinker syndrome (GSS P102L) presenting high intensity lesions in the cerebral cortex on diffusion weighted MRI].
    Author: Misumi M, Nishida Y, Araki S.
    Journal: Rinsho Shinkeigaku; 2006 Apr; 46(4):291-3. PubMed ID: 16768100.
    Abstract:
    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.
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