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Multiple Sclerosis International
Volume 2012 (2012), Article ID 760254, 6 pages
Research Article

Cortical Pathology in RRMS: Taking a Cue from Four Sisters

1The Multiple Sclerosis Centre of Veneto Region, First Neurology Clinic, Department of Neurosciences, University Hospital of Padua, Via Giustiniani 5, 35128 Padoua, Italy
2Department Public Health Clinical and Molecular Medicine, University of Cagliari, 09124 Cagliari, Italy

Received 14 May 2012; Revised 13 July 2012; Accepted 13 August 2012

Academic Editor: Antonia Ceccarelli

Copyright © 2012 Massimiliano Calabrese et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Background. Although grey matter pathology is a relevant aspect of multiple sclerosis (MS) both with physical and cognitive rebounds, its pathogenesis is still under investigation. To what extent the familial and sporadic cases of MS differ in cortical pathology has not been elucidated yet. Here we present a multiple case report of four sisters affected by MS, all of them having a very high burden of cortical pathology. Methods. The clinical and grey matter MRI parameters of the patients were compared with those of twenty-five-aged matched healthy women and 25 women affected by sporadic MS (matched for age, disease duration, EDSS, and white matter lesion load). Results. Despite their short disease duration (<5 years), the four sisters showed a significant cortical thinning compared to healthy controls ( ) and sporadic MS ( ) and higher CLs number ( ) and volume ( ) compared to sporadic MS. Discussion. Although limited to a single family, our observation is worth of interest since it suggests that familial factors may account for a peculiar involvement of the cortex in MS pathology. This hypothesis should be further evaluated in a large number of multiplex MS families.