Background: Multiple Sclerosis (MS) is a chronic multifactorial disease of the central
nervous system, specifically characterized by inflammatory demyelination and primary neurodegeneration.
Recently, a possible role for the TARDBP Ala382Thr mutation in inducing neurodegeneration
in MS has been hypothesized, considering its confirmed role in other neurodegenerative
diseases. The aim of the present study was to explore if this mutation plays a role in inducing or
enhancing the brain atrophy in MS.
Methods: The study included a group of MS patients carrying the TARDBP Ala382Thr mutation,
genetically tested at the MS Centre of the University of Cagliari. Mutated MS patients were age,
sex, disease course and EDSS-matched with MS patients without mutation, randomly selected from
the genetic database. Recruited patients underwent a brain MRI with a 1.5 Tesla Siemens scanner.
Volumes of Whole Brain (WB),White Matter (WM) and Grey Matter (GM) were estimated with
SIENAX. The difference in brain volumes was assessed with independent samples t-test.
Results: Lower WM volumes resulted significantly associated to mutated group (688.68 ml ±
36.55 vs. 713,22 ml ± 27.34; p 0.03). No difference in WB and GM volumes was reported between
the two groups.
Discussion and Conclusion: Despite this mutation does not play a major role in MS pathogenesis,
it may contribute in enhancing the brain atrophy, especially for WM. However, additional studies
in other MS populations are needed to better know this issue.