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From the Fédération de Neurologie and INSERM (Drs. Brassat, Lyon-Caen, and Fontaine, and J. Reboul, I. Cournu, and C. Mertens), Groupe Hospitalier Pitié-Salpêtrière, Paris; Hôpital Pontchaillou (Drs. Yaouanq, Semana, and Edan), Rennes; and Hôpital Purpan (Drs. Brassat, Azais-Vuillemin, and Clanet), Toulouse, France.
Address correspondence and reprint requests to Dr. Bertrand Fontaine, Fédération de Neurologie, Hôpital de la Salpêtrière, 47 Blvd. de l’ Hôpital, 75013 Paris, France.
BACKGROUND: Both genetic and environmental factors play a role in the pathophysiology of MS and may influence the clinical expression of the disease.
OBJECTIVE: To determine the contribution of familial factors to the clinical expression of MS.
METHODS: The French Multiple Sclerosis Genetics Group identified 87 sibling pairs. For each patient, sex, age at onset, duration of the disease, and disease course from onset were recorded. Disability was determined by the progression index (PI), defined as the ratio of the Expanded Disability Status Scale (EDSS) score disease duration when the latter exceeded 5 years. Statistical analyses were performed either with a group of patients (clinical features, relation between human leukocyte antigen and clinical features) or with a group of sibpairs (concordance for clinical features).
RESULTS: The mean age at onset was 29.6 years, the ratio of women to men was 59:28, and the mean PI was 0.27. There was no correlation for disease course and age at onset between sibs with MS. In contrast, we observed a weak but significant correlation of the PI in MS sibpairs (r = 0.234, p = 0.03).
CONCLUSION: This study revealed a concordance in MS sibling pairs for the disease severity, supporting the hypothesis that the degree of disability might be partly influenced by familial factors (environmental or genetic).
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