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[Clinical features of familial multiple sclerosis in Spain]
M J Fernández-Pérez1, O Barakat, J M García-Moreno
1Servicio de Neurología, Hospital Universitario Virgen Macarena, Sevilla, España.
Introduction:
Multiple sclerosis (MS) is a demyelinating and inflammatory disease of the central nervous system (CNS) with a clear proved genetic susceptibility. The real frequency and clinical features of familial MS is although not well established in Spain.
Objective:
We studied the clinical and CSF features of familial MS (FMS) patients in comparison with the rest of our patients.
Patients And Methods:
We reviewed 308 definite MS patients looking for patients with other familial members with MS. We analyzed clinical characteristics (age, age at onset, sex, evolution time, evolution course, symptoms at onset, disability measured by EDSS scale) and IgG synthesis measured by Tibbling-Link index.
Results:
We found 23 patients (10 men and 13 women) in 18 independent families with at least other family member diagnosed of definite MS (7.47% of our total MS population). Age and age at onset were no different from non FMS cases. The clinical course was relapsing-remitting in 21 out of 23 FMS cases and secondary progressive in two. No primary progressive cases were found among FMS. At onset the symptom most frequently found in FMS was optic neuritis. Mean EDSS score was lower in FMS cases in comparison with the rest of cases. Link index was increase in 93.7% of patients with FMS.
Conclusion:
In comparison with non familiar forms FMS patients in Spain, present more often remitting courses, are less disabled, optical neuritis is more frequently seen as onset symptom and IgG synthesis is more often increased.
Insights
Familial multiple sclerosis (MS) patients in Spain often have a relapsing-remitting course, less disability, and more frequent optic neuritis at onset compared to non-familial cases. Increased IgG synthesis is also common in familial MS.
Area of Science:
- Neuroimmunology
- Genetics of Neurological Disorders
- Epidemiology of Central Nervous System Diseases
Background:
- Multiple sclerosis (MS) is a central nervous system (CNS) inflammatory and demyelinating disease with known genetic susceptibility.
- The prevalence and clinical characteristics of familial MS (FMS) in Spain are not well-established.
Purpose of the Study:
- To investigate the clinical and cerebrospinal fluid (CSF) features of familial MS (FMS) patients.
- To compare FMS patients with the broader MS population in Spain.
Main Methods:
- Retrospective review of 308 definite MS patients to identify those with a family history of MS.
- Analysis of clinical data including age, age at onset, sex, disease duration, course, onset symptoms, and disability (EDSS scale).
- Assessment of IgG synthesis using the Tibbling-Link index.
Main Results:
- Identified 23 FMS patients (7.47% of total MS population) from 18 families.
- FMS patients predominantly presented with a relapsing-remitting course (21/23), with optic neuritis as the most frequent onset symptom.
- FMS cases showed lower mean EDSS scores and a higher prevalence of increased IgG synthesis (93.7%) compared to non-familial MS.
Conclusions:
- Familial MS patients in Spain exhibit distinct clinical features compared to non-familial forms.
- FMS is associated with a higher frequency of remitting courses, reduced disability, and more frequent onset with optic neuritis.
- Elevated IgG synthesis is a common finding in Spanish FMS patients.