Gerstmann-Sträussler-Scheinker Disease: A Case Report

Abstract

Gerstmann-Sträussler-Scheinker (GSS) disease is a rare hereditary prion disease which is clinically characterized by a progressive cerebellar ataxia followed by cognitive impairment. We report a rare case of GSS disease in a 39-year-old male patient who complained of a progressive gait disturbance followed by dysarthria with cognitive impairment, after five months from the onset of initial symptom. His brain MRI scan revealed multifocal symmetric diffusion restricted lesions with T2/FLAIR hyperintensities in bilateral cerebral cortices, basal ganglia, and thalami. His family members also manifested similar symptoms in their 40-50s, suggesting the possibility of a genetic disease. Finally, he was genetically diagnosed with GSS disease by real-time quaking-induced conversion and prion protein (PRNP) gene sequencing test.

Keywords: Gerstmann-Straussler-Scheinker Syndrome; Magnetic Resonance Imaging; Prion Disease; Prion Protein.

Fig. 1. A 39-year-old male diagnosed with Gerstmann-Sträussler-Scheinker disease.

A. Pedigree of the patient. Filled symbols refer to the affected patients, and diagonal lines refer to the deceased. Circles stand for females, and squares stand for males. B. Axial diffusion weighted imaging (1st row) and fluid attenuated inversion recovery (2nd row) images show multifocal symmetric hyperintense lesions involving the bilateral cerebral cortex, basal ganglia, and thalami. The T1 sagittal image (3rd row, first image) shows no definite cerebellar atrophy. The gradient echo sequences images (3rd row, right three images) show no evidence of hemorrhage. C. Western blot test confirming 14-3-3 protein positivity (left upper). RT-QuIC and sequencing result of PRNP gene, proline replaced by leucine at codon 102 (P102L) (left lower and right).