Proton magnetic resonance spectroscopy of a patient with Gerstmann-Straussler-Scheinker disease

A 23-year-old woman with Gerstmann-Straussler-Scheinker disease (GSS) was i nvestigated by H-1-magnetic resonance spectroscopy (H-1-MRS). She developed gait ataxic at 22 years. The diagnosis was confirmed by DNA analysis showi ng a proline-to-leucine point mutation at codon 102 of the prion protein. O n H-1-MRS, she showed a remarkable reduction of the N-acetylaspartate/creat ine ratio in the frontal lobe, cerebellar hemisphere and vermis and putamen , MRI revealed mild atrophy of the cerebellar hemispheres and vermis and ce rebral cortex, but single-photon emission computed tomography (SPECT) with (99m)HMPAO showed normal perfusion in the cerebellum. The imaging studies s uggest that MRS might be superior to MRI or SPECT for detection of early ne uronal degeneration.