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.
| Original language | English |
|---|---|
| Pages (from-to) | 319-325 |
| Number of pages | 7 |
| Journal | Child's Nervous System |
| Volume | 30 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Feb 2014 |
Fingerprint
Keywords
- DTI
- MRI
- MRS
- NF1
- Spectroscopy
- UBO
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology
Cite this
Evaluation of the basal ganglia in neurofibromatosis type 1. / Nicita, Francesco; Di Biasi, Claudio; Sollaku, Saadi; Cecchini, Stefano; Salpietro, Vincenzo; Pittalis, Angelo; Papetti, Laura; Ursitti, Fabiana; Ulgiati, Fiorenza; Zicari, Anna Maria; Gualdi, Gian Franco; Properzi, Enrico; Duse, Marzia; Ruggieri, Martino; Spalice, Alberto.
In: Child's Nervous System, Vol. 30, No. 2, 02.2014, p. 319-325.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Evaluation of the basal ganglia in neurofibromatosis type 1
AU - Nicita, Francesco
AU - Di Biasi, Claudio
AU - Sollaku, Saadi
AU - Cecchini, Stefano
AU - Salpietro, Vincenzo
AU - Pittalis, Angelo
AU - Papetti, Laura
AU - Ursitti, Fabiana
AU - Ulgiati, Fiorenza
AU - Zicari, Anna Maria
AU - Gualdi, Gian Franco
AU - Properzi, Enrico
AU - Duse, Marzia
AU - Ruggieri, Martino
AU - Spalice, Alberto
PY - 2014/2
Y1 - 2014/2
N2 - 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.
AB - 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.
KW - DTI
KW - MRI
KW - MRS
KW - NF1
KW - Spectroscopy
KW - UBO
UR - http://www.scopus.com/inward/record.url?scp=84893926809&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84893926809&partnerID=8YFLogxK
U2 - 10.1007/s00381-013-2236-z
DO - 10.1007/s00381-013-2236-z
M3 - Article
C2 - 23892392
AN - SCOPUS:84893926809
VL - 30
SP - 319
EP - 325
JO - Child's Nervous System
JF - Child's Nervous System
SN - 0256-7040
IS - 2
ER -