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The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in
Murat Terzi1, Emre Taskın, Neslihan Unal Akdemir
11Department of Neurology, Ondokuz Mayis University Faculty of Medicine , Samsun , Turkey.
Objective:
Central nervous system (CNS) involvement in patients with familial Mediterranean fever (FMF) is considerably rare. Patients with FMF may exhibit clinical and radiologic symptoms similar to multiple sclerosis (MS). However, the impact of the Familial Mediterranean Fever Gene (MEFV) mutations on the clinical course of MS is not fully understood as yet.
Methods:
In our study, we investigated the presence of probable MEFV mutations in patients diagnosed with definite MS and the association of these mutations with the clinical course, radiologic characteristics and disability status of the individuals. A total of 105 patients diagnosed with definite MS according to the McDonald criteria and a control group of 112 non-symptomatic individuals were included in the study.
Results:
Thirty-seven patients (35.2%) had MEFV gene mutations; three were compound heterozygotes (M694V/E148Q; M694V/V726A; P369S/E148Q) and one was homozygous for P369S. No statistically significant differences were found among patients with MS and healthy individuals with respect to existing mutations. In addition, we did not observe a statistically significant relationship between MEFV mutations and the gender of the patients, oligoclonal band (OCB) positivity, Expanded Disability Status Scale (EDSS), disease onset age, clinical presentation, affected neurologic systems, existence of spinal lesions, response to immunomodulatory treatment, time to reach EDSS scores of 3 and 6, the number of attacks and the average number of lesions on a brain MRI.
Conclusion:
Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. However, additional research studies involving more patients with MS and clinical forms are warranted to confirm our results.
Insights
Familial Mediterranean Fever (FMF) gene mutations do not appear to influence the neurological outcomes or disease progression in patients diagnosed with multiple sclerosis (MS). Further research is needed to confirm these findings in larger cohorts.
Area of Science:
- Neurology
- Genetics
- Immunology
Background:
- Familial Mediterranean Fever (FMF) can present with neurological symptoms mimicking Multiple Sclerosis (MS).
- The role of MEFV gene mutations in the clinical trajectory of MS remains unclear.
- Investigating MEFV mutations in MS patients may elucidate potential genetic influences on disease course.
Purpose of the Study:
- To determine the prevalence of MEFV gene mutations in patients with Multiple Sclerosis (MS).
- To assess the association between MEFV mutations and the clinical, radiological, and disability status in MS patients.
Main Methods:
- Genotyping for MEFV mutations was performed in 105 MS patients and 112 controls.
- Clinical data, including Expanded Disability Status Scale (EDSS) and MRI findings, were analyzed.
- Statistical analysis compared mutation carriers with non-carriers regarding disease parameters.
Main Results:
- MEFV mutations were found in 35.2% of MS patients, with no significant difference compared to controls.
- No statistically significant associations were observed between MEFV mutations and MS severity, disability, lesion load, or treatment response.
- Specific mutations (e.g., M694V, E148Q, V726A, P369S) were identified in heterozygous or homozygous states.
Conclusions:
- MEFV gene mutations do not appear to impact the neurological prognosis or disease progression in patients with Multiple Sclerosis.
- Larger studies with diverse MS phenotypes are recommended to validate these findings.
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