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

A 23-year-old woman with Gerstmann-Straussler-Scheinker disease (GSS) was investigated by ¹H-magnetic resonance spectroscopy (¹H-MRS). She developed gait ataxic at 22 years. The diagnosis was confirmed by DNA analysis showing a proline-to-leucine point mutation at codon 102 of the prion protein. On ¹H-MRS, she showed a remarkable reduction of the N-acetylaspartate/creatine ratio in the frontal lobe, cerebellar hemisphere and vermis and putamen. MRI revealed mild atrophy of the cerebellar hemispheres and vermis and cerebral cortex, but single-photon emission computed tomography (SPECT) with ^99mHMPAO showed normal perfusion in the cerebellum. The imaging studies suggest that MRS might be superior to MRI or SPECT for detection of early neuronal degeneration. Received: 31 August 1999/Accepted: 10 December 1999