RESUMEN
Gerstmann-Sträussler-Scheinker syndrome caused by the P102L mutation in the prion protein gene (GSS102) is usually characterized by the onset of slowly progressive cerebellar ataxia, with dementia occurring much later. Because of the relatively long disease course and the prominence of progressive cerebellar ataxia in the early stage, GSS102 is often misdiagnosed as other neurodegenerative disorders. We present two cases of genetically proven GSS102L, both of which present with atrophy and decreased blood flow of the thalamus as determined by voxel-based specific regional analysis system for Alzheimer's disease (VSRAD) advance software and easy Z-score analysis for 99mTc-ethyl cysteinate dimer-SPECT, respectively. These thalamic abnormalities have not been fully evaluated to date, and detecting them might be useful for differentiating GSS102 from other neurodegenerative disorders.
Asunto(s)
Enfermedad de Gerstmann-Straussler-Scheinker/diagnóstico por imagen , Enfermedad de Gerstmann-Straussler-Scheinker/genética , Imagen por Resonancia Magnética , Proteínas Priónicas/genética , Tálamo/diagnóstico por imagen , Tomografía Computarizada de Emisión de Fotón Único , Anciano , Cisteína/análogos & derivados , Femenino , Humanos , Interpretación de Imagen Asistida por Computador , Persona de Mediana Edad , Mutación , Compuestos de Organotecnecio , RadiofármacosRESUMEN
PURPOSE: The aim of this study was to investigate interictal cerebral blood flow (CBF) distributions and graph theoretical networks in idiopathic generalized epilepsy (IGE) using arterial spin labeling (ASL) imaging and anatomical covariance methods of graph theoretical analysis. MATERIAL AND METHODS: We recruited 19 patients with IGE and 19 age-/gender-matched healthy controls. Their CBF images were obtained by pseudo-continuous ASL imaging and compared using statistical parametric mapping 8 software (SPM8) and Graph Analysis Toolbox (GAT). RESULTS: The ASL imaging could detect interictal hypoperfusion in the thalamus, upper midbrain, and left cerebellum in IGE. Additionally, the graph theoretical analyses revealed characteristic findings of the CBF network of IGE, including significantly reduced resilience to attacks and changes of regional clustering especially in the bilateral temporo-occipital areas and lateral frontal lobes. There was no significance in the comparisons of network metrics. CONCLUSION: These findings could contribute to a better understanding of the pathophysiology of IGE.