A chemical shift imaging study on regional metabolite distribution in a CADASIL family

Maria Antonietta Macrì, Claudio Colonnese, Girolamo Garreffa, Francesco Fattapposta, Rita Restuccia, Federico Bianco, Ludovica Labruna, Bruno Maraviglia

Research output: Contribution to journalArticle


A chemical shift imaging (CSI) study was performed to directly assess relative concentrations of N-acetylaspartate (NAA), Cho and Cr metabolites in normal- and abnormal-appearing brain tissue of asymptomatic and symptomatic members of a single family with a neuropathologic, genetic and electrophysiological confirmed diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. The aim of the investigation was to evaluate clinical findings and metabolite abnormalities as early appearance of axonal injury in this syndrome. The main findings related statistically significant decreases in the mean metabolite ratios for NAA/Cr, NAA/Cho and Cho/Cr in the anterior parts in comparison with the posterior parts of the centrum semiovale in symptomatic and asymptomatic patients. The effect was considerably greater in the symptomatic patients, indicating a strong correlation between CSI and pathology results. No differences were found between the two areas in the control group. Although lactate signals were hardly detectable in individual spectra, there was a trend toward increased Lac/Cr values in the anterior parts with respect to the posterior parts in the patient group, with the effect particularly evident in the asymptomatic subjects with the gene mutation.

Original languageEnglish
Pages (from-to)443-447
Number of pages5
JournalMagnetic Resonance Imaging
Issue number4
Publication statusPublished - May 2006


  • 1H-MRSI
  • Centrum semiovale
  • Metabolite concentration

ASJC Scopus subject areas

  • Biophysics
  • Clinical Biochemistry
  • Structural Biology
  • Radiology Nuclear Medicine and imaging
  • Condensed Matter Physics

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    Macrì, M. A., Colonnese, C., Garreffa, G., Fattapposta, F., Restuccia, R., Bianco, F., Labruna, L., & Maraviglia, B. (2006). A chemical shift imaging study on regional metabolite distribution in a CADASIL family. Magnetic Resonance Imaging, 24(4), 443-447. https://doi.org/10.1016/j.mri.2005.11.002