NR AGQV
AU Konaka,K.; Kaido,M.; Okuda,Y.; Aoike,F.; Abe,K.; Kitamoto,T.; Yanagihara,T.
TI Proton magnetic resonance spectroscopy of a patient with Gerstmann-Sträussler-Scheinker disease
QU Neuroradiology 2000 Sep; 42(9): 662-5
PT journal article
AB A 23-year-old woman with Gerstmann-Sträussler-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.
MH Adult; Atrophy/pathology; Brain/metabolism/*pathology; Case Report; Cerebellum/pathology; Codon; DNA Mutational Analysis; Female; Gerstmann-Sträussler-Scheinker Disease/*diagnosis/genetics; Human; *Magnetic Resonance Imaging; Pedigree; Point Mutation/genetics; Protons; Radiopharmaceuticals/diagnostic use; Technetium Tc 99m Exametazime/diagnostic use; Tomography, Emission-Computed, Single-Photon
AD Department of Neurology, Osaka University Graduate School of Medicine, Suita city, Japan.
SP englisch
PO Deutschland