MRI characteristics of familial and sporadic multiple sclerosis patients

作者：Tipirneni Anita; Weinstock Guttman Bianca; Ramanathan Murali; Abdelrahman Nadir; Hussein Sara; Hagemeier Jesper; Durfee Jacqueline; Teter Barbara E; Hojnacki David; Dwyer Michael G; Zivadinov Robert^*

来源：Multiple Sclerosis, 2013, 19(9): 1145-1152.

DOI：10.1177/1352458512469697

• Multiple sclerosis
• familial
• sporadic
• MRI
• lesion burden
• brain atrophy
• magnetization transfer imaging
• diffusion-weighted imaging
• degree of affected relative

Purpose: To investigate the MRI characteristics in a large cohort of multiple sclerosis (MS) patients with and without a family history of MS.
Methods: Enrolled in this prospective study were 758 consecutive MS patients (mean age 46.2 10.1 years, disease duration 13.6 9.2 years and EDSS 3.4 +/- 2.1), of whom 477 had relapsing-remitting, 222 secondary-progressive, and 30 primary-progressive disease courses and 29 had clinically isolated syndrome. One hundred and ninety-six patients (25.9%) had a positive family history of MS. Patients were assessed using measurements of lesions, brain atrophy, magnetization transfer ratio (MTR) and diffusion-weighted imaging.
Results: The familial MS group had greater T1-lesion volume (p=0.009) and a trend for lower MTR of T1-lesion volume (p=0.047) than the sporadic MS group. No clinical differences were found between familial versus sporadic group, or by a degree of affected relative subgroups.
Conclusions: While familial MS was associated with more severe T1-lesion volume and its MTR characteristics, there were no clinical status differences between familial and sporadic MS patients. Therefore, a better understanding of the genetic and/or epigenetic influences causing these differences can advance the understanding and management of MS.

• 出版日期2013-8