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Evaluation of the basal ganglia in neurofibromatosis type 1

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Abstract

Purpose

Alterations of the brain microstructure and metabolism have been identified in patients with neurofibromatosis type 1 (NF1). In this study, we analyzed the basal ganglia of NF1 subjects without cognitive delay throughout a combined approach with magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) in order to better define the metabolic and microstructural characteristics of these regions and, furthermore, to verify if metabolic and microstructural abnormalities may be present in normally developed NF1 patients.

Methods

A 3-T MRI with multivoxel MRS and DTI was performed in 14 NF1 patients and eight controls. N-acetyl-aspartate (NAA), choline (Cho), creatine (Cr) values and ratios, fractional anisotropy, and apparent diffusion coefficient (ADC) were calculated, for a total of four regions of interest (ROI) for each hemisphere.

Results

NF1 patients, compared to healthy controls, showed (a) decreased NAA in all the four ROI, (b) increased Cho and decreased Cr in three of the four ROI, (c) decreased NAA/Cho ratio in three ROI, and (d) increased ADC in all the four ROI. A trend of increased ADC was present in three of the four ROI of NF1 patients with unidentified bright objects (UBOs) and younger than 18 years.

Conclusion

These data confirm the presence of neuroaxonal damage with myelin disturbances in NF1 patients. We showed that metabolic and microstructural anomalies can be present in the same time in NF1 patients without developmental delay or cognitive deficits. Relations between brain anomalies, UBOs, and cognitive functions need further studies.

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Authors and Affiliations

  1. Department of Pediatrics, Child Neurology Division, Policlinico Umberto I, “Sapienza”, University of Rome, Viale Regina Elena 324, 00161, Rome, Italy

    Francesco Nicita, Laura Papetti, Fabiana Ursitti, Fiorenza Ulgiati, Enrico Properzi & Alberto Spalice

  2. Department of Radiology, Policlinico Umberto I, “Sapienza”, University of Rome, Rome, Italy

    Claudio Di Biasi, Saadi Sollaku, Angelo Pittalis & Gian Franco Gualdi

  3. Biomedical Instrumentation Lab, Università Campus Bio-Medico di Roma, Rome, Italy

    Stefano Cecchini

  4. Division of Genetics and Immunology, Department of Pediatrics, University of Messina, Messina, Italy

    Vincenzo Salpietro

  5. Department of Pediatrics, Sapienza University of Rome, Viale Regina Elena 324, 00161, Rome, Italy

    Anna Maria Zicari & Marzia Duse

  6. Department of Educational Sciences, University of Catania, Catania, Italy

    Martino Ruggieri

Authors
  1. Francesco Nicita
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  2. Claudio Di Biasi
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  3. Saadi Sollaku
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  4. Stefano Cecchini
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  5. Vincenzo Salpietro
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  6. Angelo Pittalis
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  7. Laura Papetti
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  8. Fabiana Ursitti
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  9. Fiorenza Ulgiati
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  10. Anna Maria Zicari
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  11. Gian Franco Gualdi
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  12. Enrico Properzi
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  13. Marzia Duse
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  14. Martino Ruggieri
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  15. Alberto Spalice
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Corresponding author

Correspondence to Alberto Spalice.

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Nicita, F., Di Biasi, C., Sollaku, S. et al. Evaluation of the basal ganglia in neurofibromatosis type 1. Childs Nerv Syst 30, 319–325 (2014). https://doi.org/10.1007/s00381-013-2236-z

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  • DOI: https://doi.org/10.1007/s00381-013-2236-z

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