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Early structural changes in individuals at risk of familial Alzheimer’s disease: a volumetry and magnetization transfer MR imaging study

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Abstract

Presenilin 1 (PS1) mutation carriers provide the opportunity to asses early features of neurodegeneration in familial Alzheimer’s disease (AD). Gray matter (GM) regional volume loss and decrease of magnetization transfer ratio (MTR) consistent with microstructural changes have been reported in sporadic AD. We performed a regional volumetric and MTR analysis in carriers of PS1 mutations. Six non-demented mutated PS1 carriers (5 with memory deficits) and 14 healthy subjects were examined with high resolution T1-weighted images for volumetry and with T2* weighted images for MTR. Cortical GM volume and MTR values were derived. Compared to healthy controls, the GM volume of the left temporal and inferior parietal cortex and the MTR of the temporal cortex bilaterally were significantly decreased in PS1 gene carriers. In the latter, the temporal lobe MTR showed a trend for correlation with memory and executive function scores. Early neurodegeneration in non-demented subjects at risk for familial AD may be associated with atrophy and decreased MTR in the temporal cortex.

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Authors and Affiliations

  1. Radiodiagnostic Section, Department of Clinical Physiopathology, University of Florence, Viale Morgagni 85, Florence, Italy

    A. Ginestroni, R. Della Nave & M. Mascalchi

  2. Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy

    M. Battaglini & N. De Stefano

  3. Neuroradiology Unit, Careggi Hospital, Florence, Italy

    M. Moretti

  4. Radiology Unit, Versilia Hospital, Pietrasanta, Lucca, Italy

    C. Tessa

  5. Medical Physics, S. Chiara Hospital, Pisa, Italy

    M. Giannelli

  6. Department of Neuroscience, Neurology Unit, University of Parma, Parma, Italy

    P. Caffarra

  7. Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy

    B. Nacmias, V. Bessi, S. Sorbi & L. Bracco

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  1. A. Ginestroni
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  2. M. Battaglini
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  13. M. Mascalchi
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Correspondence to M. Mascalchi.

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Ginestroni, A., Battaglini, M., Della Nave, R. et al. Early structural changes in individuals at risk of familial Alzheimer’s disease: a volumetry and magnetization transfer MR imaging study. J Neurol 256, 925–932 (2009). https://doi.org/10.1007/s00415-009-5044-3

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  • DOI: https://doi.org/10.1007/s00415-009-5044-3

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