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Published on: December 9, 2015
Familial multiple sclerosis is associated with accelerated progression to secondary progressive phase: a
Serkan Ozakbaş1, Said Alizada2, Can Caliskan3
1Izmir University of Economics, Izmir, Turkey.
Background:
Familial multiple sclerosis (MS), defined by the occurrence of MS in one or more relatives, is thought to represent a genetically influenced subtype of the disease.
Objective:
To compare clinical progression, cerebrospinal fluid (CSF) parameters, and treatment responses between familial and sporadic MS patients.
Methods:
We conducted a retrospective analysis of 1,035 patients diagnosed with MS according to the 2017 McDonald criteria (523 familial, 512 sporadic). Demographic variables, MS subtypes, expanded disability status scale (EDSS) scores, CSF oligoclonal band (OCB) status, IgG index, and treatment regimens were evaluated. Statistical tests included t tests, chi-square, and multivariable regression.
Results:
Familial MS patients showed a higher incidence of secondary progressive MS (10.9%) compared to sporadic cases (7.0%, p = 0.030). Disease duration was significantly longer in familial MS (14.5 vs. 12.3 years, p < 0.01) though time to diagnosis did not differ. OCB positivity rates were comparable, but the IgG index was significantly elevated in familial MS (p < 0.01). Treatment responses did not differ between groups.
Conclusion:
Familial MS is associated with more rapid disease progression and enhanced humoral immune activation, suggesting a distinct phenotype. These findings support the need for genetic and immunologic investigations to guide personalized treatment strategies.
Insights
Familial multiple sclerosis (MS) shows faster progression and increased immune activation compared to sporadic MS. This suggests familial MS may be a distinct subtype requiring tailored genetic and immunologic research for personalized treatments.
Area of Science:
- Neurology
- Immunology
- Genetics
Background:
- Familial multiple sclerosis (MS) is hypothesized to be a genetically influenced subtype.
- Understanding its distinct characteristics is crucial for targeted therapies.
Purpose of the Study:
- To compare clinical progression, cerebrospinal fluid (CSF) parameters, and treatment responses between familial and sporadic MS patients.
- To identify potential phenotypic differences in familial MS.
Main Methods:
- Retrospective analysis of 1,035 MS patients (523 familial, 512 sporadic) using 2017 McDonald criteria.
- Evaluation of demographic data, MS subtypes, EDSS scores, CSF oligoclonal bands (OCB), IgG index, and treatments.
- Statistical analysis using t tests, chi-square, and multivariable regression.
Main Results:
- Familial MS exhibited a higher incidence of secondary progressive MS (10.9% vs. 7.0%) and longer disease duration (14.5 vs. 12.3 years).
- CSF analysis revealed comparable OCB positivity but a significantly elevated IgG index in familial MS.
- No significant differences were observed in treatment responses between familial and sporadic MS groups.
Conclusions:
- Familial MS presents a distinct phenotype characterized by more rapid disease progression and enhanced humoral immune activation.
- These findings underscore the importance of genetic and immunologic investigations for developing personalized treatment strategies in familial MS.
