title: Evaluation of the basal ganglia in neurofibromatosis type 1.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, Child Neurology Division, Policlinico Umberto I, "Sapienza", University of Rome, Viale Regina Elena 324, 00161, Rome, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Nicita
authors.forename: Claudio
authors.initials: C
authors.lastname: Di Biasi
authors.forename: Saadi
authors.initials: S
authors.lastname: Sollaku
authors.forename: Stefano
authors.initials: S
authors.lastname: Cecchini
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Salpietro
authors.forename: Angelo
authors.initials: A
authors.lastname: Pittalis
authors.forename: Laura
authors.initials: L
authors.lastname: Papetti
authors.forename: Fabiana
authors.initials: F
authors.lastname: Ursitti
authors.forename: Fiorenza
authors.initials: F
authors.lastname: Ulgiati
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Zicari
authors.forename: Gian Franco
authors.initials: GF
authors.lastname: Gualdi
authors.forename: Enrico
authors.initials: E
authors.lastname: Properzi
authors.forename: Marzia
authors.initials: M
authors.lastname: Duse
authors.forename: Martino
authors.initials: M
authors.lastname: Ruggieri
authors.forename: Alberto
authors.initials: A
authors.lastname: Spalice
mesh_terms: D000293:Adolescent; D000328:Adult; D001479:Basal Ganglia / Q000473:pathology*; D002648:Child; D056324:Diffusion Tensor Imaging; D005260:Female; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D064847:Multimodal Imaging; D009456:Neurofibromatosis 1 / Q000150:complications / Q000473:pathology*; D055815:Young Adult
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