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

Abstract

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.

Combined Diffusion Imaging and MR Spectroscopy in the Diagnosis of Human Prion Diseases

“…Our findings are similar to those reported in previously published articles of human and animal models of prion diseases. 4,10,[21][22][23][24][25][26][27] We did not observe any correlation between ADC values and any metabolic ratio. This does not support neuronal stress such as vacuolization (spongiform changes) as the main factor that could explain a reduced diffusibility of water.…”

Imaging of prion diseases

“…As seen with the other prion diseases, NAA may be decreased diffusely in the brain parenchyma (11,84). SPECT demonstrates hypoperfusion within the cerebrum, usually greater in the occipital lobes (83,84,86). One case report using FDG-PET demonstrated decreased cortical metabolism most notable in the frontal, temporal, and parietal areas (87).…”

“…MRI, including DWI, may also be normal in a significant proportion of patients (83), a feature that may be related to the variable degree of spongiform changes seen in this condition (3). As seen with the other prion diseases, NAA may be decreased diffusely in the brain parenchyma (11,84). SPECT demonstrates hypoperfusion within the cerebrum, usually greater in the occipital lobes (83,84,86).…”

“…MRI is usually normal or may demonstrate atrophy either diffusely or confined to the cerebellum (11,(82)(83)(84). Few reports described variable MRI findings including increased T2 signal involving the basal ganglia and posterior limb of the internal capsule (82) as well as hyperintensity within the cortex and/or basal ganglia on DWI, reminiscent of sCJD (83,85,86).…”

Molecular Genetics of Gerstmann-Straussler-Scheinker Disease and Creutzfeld-Jakob Disease

“…This mutation was subsequently found in several families from Japan [65][66][67][68][69][70][71], Germany [72,73] -in the well described Sch. family [74][75][76][77], Israel [78], Hungary [79], Poland [80], UK [81,82], Italy [83][84][85] and in the original Viennese "H" family [86].…”