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Familial factors influence disability in MS multiplex families. French Multiple Sclerosis Genetics Group
D Brassat1, C Azais-Vuillemin, J Yaouanq
1Fédération de Neurologie and INSERM, Groupe Hospitalier Pitié-Salpêtrière, 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).
Insights
Familial factors influence multiple sclerosis (MS) severity. This study found a significant correlation in disease progression among MS sibling pairs, suggesting a role for genetic or environmental influences.
Area of Science:
- Neurology
- Genetics
- Epidemiology
Background:
- Multiple sclerosis (MS) pathophysiology involves both genetic and environmental factors.
- These factors can influence how the disease manifests clinically.
Purpose of the Study:
- To investigate the role of familial factors in the clinical presentation of multiple sclerosis.
- To determine if sibling pairs with MS share similar disease characteristics.
Main Methods:
- The French Multiple Sclerosis Genetics Group studied 87 sibling pairs.
- Clinical data including age at onset, disease duration, and disease course were collected.
- Disability was assessed using the Progression Index (PI), derived from the Expanded Disability Status Scale (EDSS).
Main Results:
- No significant correlation was found for disease course or age at onset between siblings.
- A weak but significant positive correlation (r = 0.234, p = 0.03) was observed for the Progression Index (PI) in sibling pairs.
- The mean age at onset was 29.6 years, with a female to male ratio of 59:28.
Conclusions:
- Sibling pairs with multiple sclerosis exhibit concordance in disease severity.
- This suggests that familial factors, potentially genetic or environmental, contribute to the degree of disability in MS.