Rinsho Shinkeigaku (Clinical Neurology)

Case Report

A case of Gerstmann-Sträussler-Scheinker syndrome (GSS-P102L) mimicking variant Creurtzfeldt-Jakob disease in clinical manifestation and MRI findings

Akiko Kanata, M.D.1), Kazumasa Saigoh, M.D.1), Yoshiyuki Mitsui, M.D.1), Tetsuyuki Kitamoto, M.D.2) and Susumu Kusunoki, M.D.1)

1)Department of Neurology, Kinki University School of Medicine
2)Division of CJD Science and Technology Department of Prion Reserch, Center for Translational and Advanced Animal Reserch on Human Diseases, Tohoku University Graduate School of Medicine

We reported a 51-year-old woman with Gerstmann-Straussler-Scheinker syndrome (GSS P102L) manifesting characteristic MRI findings. At the age of 45, She developed gait disturbance with muscle atrophy in the lower limbs and positive plantar flexor sign. Subsequently, sensory disturbance such as refractory pain in the lower limbs and ataxic gait were developed at the age of 49. Following these clinical symptoms, she finally demonstrated rapid progressive cognitive dysfunction. Just after presenting cognitive dysfunction, cranial MRI was performed. Cranial MRI with diffusion-weighted imaging and FLAIR imaging demonstrated abnormal high intensity lesions in the bilateral pulvinar, caudate nuclei and cerebral cortex. The degree of high signal at the pulvinar was less than those of the cortex and caudate nuclei. A proline-for-leucine substitution at codon 102 of the prion protein gene was demonstrated. These results allowed the diagnosis of GSS (P102L). This is a rare case of GSS (P102L) presenting with high intensity lesions in the bilateral pulvinar on MRI.
Full Text of this Article in Japanese PDF (505K)

(CLINICA NEUROL, 48: 179－183, 2008)
key words: Creutzfeldt-Jakob disease (CJD), prion disease, Gerstmann-Sträussler-Scheinker syndrome, MRI, variant Creutzfeldt-Jakob disease (vCJD)

(Received: 2-Mar-07)