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Published on: December 9, 2015
[Familial multiple sclerosis in Canary Islands]
R Amela-Peris1, Y Aladro, M A Conde-Sendín
1Servicio de Neurología, Hospital de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain.
Introduction:
Multiple sclerosis (MS) is an autoimmune disease that occurs in genetically predisposed individuals. Its inheritance is polygenic. Genetic epidemiology studies have shown an increased familial aggregation. AIM. To determine the prevalence of familial MS (fMS) in a series of patients from the Canary Islands.
Patients And Methods:
From a cohort of 266 patients with defined MS, during a 6-year period, we investigated prospectively by personal interviews the presence of MS on first and second degree relatives. We analysed as well the presence of HLA DRB1 in affected families, and also clinical and demographic characteristics in fMS and compared them with sporadic MS (sMS).
Results:
fMS prevalence was 13.9% (27 non-related families with 50 affected individuals). The HLA DRB01*1501 allele were present in 51,8% of familial cases. We could not found either intrafamilial concordance in clinically affected regions and age of onset or clinical evolution. We have not found any phenotypic differences between familial and sMS.
Conclusions:
The prevalence of fMS in our series is comparable to that in other Mediterranean populations. Our results do not support that fMS was a different clinical entity of sMS and intrafamilial concordance in its clinical expression.
Insights
Familial multiple sclerosis (MS) affects 13.9% of patients in the Canary Islands. This study found no clinical differences between familial and sporadic MS, suggesting they are not distinct entities.
Area of Science:
- Genetics
- Neurology
- Epidemiology
Context:
- Multiple sclerosis (MS) is a polygenic autoimmune disease with known familial aggregation.
- Understanding familial MS (fMS) prevalence is crucial for genetic and epidemiological insights.
Purpose:
- To determine the prevalence of familial MS (fMS) in a patient cohort from the Canary Islands.
- To analyze HLA DRB1 presence, clinical, and demographic characteristics in fMS compared to sporadic MS (sMS).
Summary:
- fMS prevalence was 13.9% in the Canary Islands cohort.
- The HLA DRB01*1501 allele was more frequent in familial cases.
- No intrafamilial concordance in clinical expression or phenotypic differences between fMS and sMS were observed.
Impact:
- The fMS prevalence aligns with other Mediterranean populations.
- Findings suggest fMS and sMS are not distinct clinical entities.
- This research contributes to the understanding of MS genetic epidemiology.
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