Evaluation of the basal ganglia in neurofibromatosis type 1

Francesco Nicita, Claudio Di Biasi, Saadi Sollaku, Stefano Cecchini, Vincenzo Salpietro, Angelo Pittalis, Laura Papetti, Fabiana Ursitti, Fiorenza Ulgiati, Anna Maria Zicari, Gian Franco Gualdi, Enrico Properzi, Marzia Duse, Martino Ruggieri, Alberto Spalice

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)319-325
Number of pages7
JournalChild's Nervous System
Issue number2
Publication statusPublished - Feb 2014


  • DTI
  • MRI
  • MRS
  • NF1
  • Spectroscopy
  • UBO

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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