MRI characteristics of familial and sporadic multiple sclerosis patients

• Published in: Multiple sclerosis 2013-08, Vol.19 (9), p.1145-1152
• Main Authors: 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
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Brain - pathology; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Genetic Predisposition to Disease; Humans; Image Interpretation, Computer-Assisted; Magnetic Resonance Imaging; Male; Medical sciences; Middle Aged; Multiple Sclerosis - pathology; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis; Neurology
• ISSN: 1352-4585; 1477-0970
• DOI: 10.1177/1352458512469697

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.