Abstract
Diffusion tensor imaging (DTI) is a noninvasive, quantitative MRI technique that measures white matter (WM) integrity. Many brain dimensions are heritable, including white matter integrity measured with DTI. Family studies are valuable to provide insights into the interactive effects of non-environmental factors on multiple sclerosis (MS). To examine the contribution of familial factors to the diffusion signals across WM microstructure, we performed DTI and calculated neurite orientation dispersion plus density imaging (NODDI) diffusion parameters in two patient groups comprising familial and sporadic forms of multiple sclerosis and their unaffected relatives. We divided 111 subjects (49 men and 62 women: age range 19–60) into three groups conforming to their MS history. The familial MS group included 30 participants (patients; n = 16, healthy relatives; n = 14). The sporadic group included 41 participants (patients; n = 10, healthy relatives; n = 31). Forty age-matched subjects with no history of MS in their families were defined as the control group. To study white matter integrity, two methods were employed: one for calculating the mean of DTI, FA, and MD parameters on 18 tracts using Tracts Constrained by Underlying Anatomy (TRACULA) and the other for whole brain voxel-based analysis using tract-based spatial statistics (TBSS) on NDI and ODI parameters derived from NODDI and DTI parameters. Voxel-based analysis showed considerable changes in FA, MD, NDI, and ODI in the familial group when compared with the control group, reflecting widespread impairment of white matter in this group. The analysis of 18 tracts with TRACULA revealed increased MD and FA reduction in more tracts (left and right ILF, UNC, and SLFT, forceps major and minor) in familial MS patients vs. the control group. There were no significant differences between the patient groups. We found no consequential changes in healthy relatives of both patient groups in voxel-based and tract analyses. Considering the multifactorial etiology of MS, familial studies are of great importance to clarify the effects of certain predisposing factors on demyelinating brain pathology.
Highlights
Multiple sclerosis (MS) is a chronic degenerative disease of the entire neuroaxis that originates from autoimmunity processes and presents diverse clinical manifestations
The signal-to-noise ratio (SNR) comparison in this direction showed no significant difference between groups
We analyzed WM microstructure through diffusion parameters to demonstrate how predisposing genetic factors can influence the integrity of the cerebral white matter of patients with MS
Summary
Multiple sclerosis (MS) is a chronic degenerative disease of the entire neuroaxis that originates from autoimmunity processes and presents diverse clinical manifestations. Many brain dimensions are highly heritable, including whole brain volume [6], regional gray and white matter volumes [7], cortical thickness [8, 9], and white matter integrity measured with DTI [10,11,12] regarding healthy or disordered states [12, 13]. Cortical gray matter thickness becomes more heritable with increasing age in late-maturing areas [21]. Some of the same genes could influence the level of integration throughout the white matter as IQ [22]; no study has investigated the pattern of heritability fluctuations with age. Magnetization transfer imaging ratio (MTR)-determined tissue integrity revealed more widespread abnormalities in patients with familial MS compared with healthy subjects [24]. Familial clustering has been noted for decades [25]
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