İÇ EGE BÖLGESİNDE FAMİLYAL MULTİPL SKLEROZUN KLİNİK VE DEMOGRAFİK ÖZELLİKLERİ

Yıl 2024, Cilt: 25 Sayı: 2, 189 – 193, 29.04.2024

Gökçe Zeytin Demiral , Selin Betaş

https://doi.org/10.18229/kocatepetip.1293262

Öz

AMAÇ: Multipl skleroz (MS), merkezi sinir sisteminin (CNS) sık görülen bir otoimmün demiyelinizan hastalığıdır. Bu çalışmada retrospektif olarak MS tanılı hastaların toplanması Türk toplumunda ailesel ve sporadik MS hastalarının özelliklerini karşılaştırmak ve ailesel özellik gösteren MS hastalarının sıklığı ve bu hastaların klinik ve demografik özelliklerini belirlemek amaçlandı.
GEREÇ VE YÖNTEM: Bu kesitsel kayıt tabanlı çalışma, 01 Ocak 2022-01 Haziran 2022 tarihleri arasında Afyonkarahisar Sağlık Bilimleri Üniversitesi Nöroloji Anabilim Dalı’nda 2017 McDonald kriterlerine göre MS tanısı ile takipli hasta verileri ile yapıldı. Hastaların demografik verileri, klinik bulguları, başlangıç yaşları, ortalama hastalık süresi, başlangıç semptomları ve MS subtipleri değerlendirildi.
BULGULAR: Türk populasyonunda ailesel MS (FMS) sıklığı %7.3 olarak saptandı. FMS varlığı erken hastalık yaşı ile ilişkili bulunmadı. En sık başlangıç semptomu duyusal semptomlar en sık MS subtipi relapsing remitting MS olarak değerlendirildi ve genişletilmiş durum özürlülük skalası skoru hesaplandı ve FMS varlığı ile yüksek hastalık aktivitesi arasında ilişki saptanmadı.
SONUÇ: Türk populasyonunda FMS oranı daha çok Avrupa-Latin ülkelerine benzer bulunmuştur. Klinik ve demografik özellikler ise Avrupa ve Orta doğu ile benzer bulunmuştur.

Anahtar Kelimeler

Multipl skleroz, Demiyelinizan hastalıklar, Demografik faktörler.

Kaynakça

• 1. Cotsapas C, Mitrovic M, Hafler D. Multiple sclerosis. Handb Clin Neurol. 2018;148:723–30.
• 2. Yamout B, Alroughani R. Multiple Sclerosis. Semin Neurol. 2018;38(02):212–25.
• 3. Oh J, Vidal-Jordana A, Montalban X. Multiple sclerosis: clinical aspects. Curr Opin Neurol. 2018;31(6):752–9.
• 4. Salehi Z, Almasi-Hashiani A, Sahraian MA, et al. Epidemiology of familial multiple sclerosis in Iran: a national registry-based study. BMC Neurol. 2022;22(1):76.
• 5. Steenhof M, Stenager E, Nielsen NM, et al. Familial multiple sclerosis patients have a shorter delay in diagnosis than sporadic cases. Mult Scler Relat Disord. 2019;32:97–102.
• 6. Ruiz F, Vigne S, Pot C. Resolution of inflammation during multiple sclerosis. Semin Immunopathol. 2019;41(6):711–26.
• 7. Katsavos S, Artemiadis A, Davaki P, et al. Familial multiple sclerosis in Greece: Distinct clinical and imaging characteristics in comparison with the sporadic disease. Clin Neurol Neurosurg. 2018;173:144–9.
• 8. Maver A, Lavtar P, Ristić S, et al. Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis. Sci Rep. 2017;7(1):3715.
• 9. Barizzone N, Cagliani R, Basagni C, et al. An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients. Genes (Basel). 2021;12(10):1607.
• 10. Rose J, Lynch S, Pisani P, et al. Genetic susceptibility in familial multiple sclerosis not linked to the myelin basic protein gene. The Lancet. 1993;341(8854):1179–81.
• 11. Haines J. Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity. The Multiple Sclerosis Genetics Group. Hum Mol Genet. 1998;7(8):1229–34.
• 12. Seboun E, Oksenberg JR, Rombos A, et al. Linkage analysis of candidate myelin genes in familial multiple sclerosis. Neurogenetics. 1999;2(3):155–62.
• 13. Harirchian MH, Fatehi F, Sarraf P, et al. Worldwide prevalence of familial multiple sclerosis: A systematic review and meta-analysis. Mult Scler Relat Disord. 2018;20:43–7.
• 14. Razazian N, Eskandarieh S, Siabani S, et al. Prevalence of Multiple sclerosis and its clinical and demographic characteristics in Kurdish populations in western Iran (2020). Mult Scler Relat Disord. 2022;57:103441.
• 15. Rojas JI, Patrucco L, MIguez J, et al. Disease onset in familial and sporadic multiple sclerosis in Argentina. Mult Scler Relat Disord. 2016;6:54–6.
• 16. Ceccarelli A, Mifsud VA, Dogar A. Demographic and clinical characteristics of familial and sporadic multiple sclerosis: A single center exploratory study from Abu Dhabi. Journal of Clinical Neuroscience. 2020;76:145–7.
• 17. Farez MF, Balbuena Aguirre ME, Varela F, et al. Low familial risks for multiple sclerosis in Buenos Aires, Argentina. J Neurol Sci. 2014;346(1–2):268–70.
• 18. Smagina I V., Elchaninova EYu, Elchaninova SA. Multiple sclerosis in the Altai region of Russia: a prospective epidemiological study. Zhurnal nevrologii i psikhiatrii im SS Korsakova. 2019;119(2):7.
• 19. Fernández-Pérez MJ, Barakat O, García-Moreno JM, ve ark. Características clínicas de la esclerosis múltiple familiar en España [Clinical features of familial multiple sclerosis in Spain]. Rev Neurol. 1999;29(8):693-6.
• 20. Alifirova VM, Titova MA, Terskikh EV, Musina NF, Sjomkina AA, Gumenyuk YS. Familial multiple sclerosis in Tomsk region. Zhurnal nevrologii i psikhiatrii im SS Korsakova. 2016;116(10):6-9.
• 21. Balcerac A, Louapre C. Genetics and familial distribution of multiple sclerosis: A review. Rev Neurol (Paris). 2022;178(6):512–20

CLINICAL AND DEMOGRAPHIC CHARACTERISTICS OF FAMILIAL MULTIPLE SCLEROSIS IN THE INNER AEGEAN REGION

Yıl 2024, Cilt: 25 Sayı: 2, 189 – 193, 29.04.2024

Gökçe Zeytin Demiral , Selin Betaş

https://doi.org/10.18229/kocatepetip.1293262

Öz

OBJECTIVE: Multiple sclerosis (MS) is a common autoimmune demyelinating disease of the central nervous system (CNS). In this study, it was aimed to collect patients with MS retrospectively, to compare the characteristics of familial and sporadic MS patients in Turkish population, and to determine the frequency of familial MS patients and the clinical and demographic characteristics of these patients.
MATERIAL AND METHODS: This cross-sectional record-based study was conducted between 01 January 2022 and 01 June 2022 in Afyonkarahisar Health Sciences University, Department of Neurology, with the data of patients with MS diagnosis and followed-up according to the 2017 McDonald criteria. Demographic data, clinical findings, age at onset, mean disease duration, onset symptoms and MS subtypes of the patients were evaluated.
RESULTS: The frequency of familial MS (FMS) in the Turkish population was 7.3%. The presence of FMS was not found to be associated with early disease age. The most common initial symptom was sensory symptoms, and the most common MS subtype was relapsing remitting MS, and the Extended-state disability scale score was calculated, and no relation was found between the presence of FMS and high disease activity.
CONCLUSIONS: The FMS rate in the Turkish population was found to be more similar to Euro-Latin countries. Clinical and demographic characteristics were found to be similar to those of Europe and the Middle East.

Anahtar Kelimeler

Multiple sclerosis, Demyelinating diseases, Demographic factors.

Kaynakça

• 1. Cotsapas C, Mitrovic M, Hafler D. Multiple sclerosis. Handb Clin Neurol. 2018;148:723–30.
• 2. Yamout B, Alroughani R. Multiple Sclerosis. Semin Neurol. 2018;38(02):212–25.
• 3. Oh J, Vidal-Jordana A, Montalban X. Multiple sclerosis: clinical aspects. Curr Opin Neurol. 2018;31(6):752–9.
• 4. Salehi Z, Almasi-Hashiani A, Sahraian MA, et al. Epidemiology of familial multiple sclerosis in Iran: a national registry-based study. BMC Neurol. 2022;22(1):76.
• 5. Steenhof M, Stenager E, Nielsen NM, et al. Familial multiple sclerosis patients have a shorter delay in diagnosis than sporadic cases. Mult Scler Relat Disord. 2019;32:97–102.
• 6. Ruiz F, Vigne S, Pot C. Resolution of inflammation during multiple sclerosis. Semin Immunopathol. 2019;41(6):711–26.
• 7. Katsavos S, Artemiadis A, Davaki P, et al. Familial multiple sclerosis in Greece: Distinct clinical and imaging characteristics in comparison with the sporadic disease. Clin Neurol Neurosurg. 2018;173:144–9.
• 8. Maver A, Lavtar P, Ristić S, et al. Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis. Sci Rep. 2017;7(1):3715.
• 9. Barizzone N, Cagliani R, Basagni C, et al. An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients. Genes (Basel). 2021;12(10):1607.
• 10. Rose J, Lynch S, Pisani P, et al. Genetic susceptibility in familial multiple sclerosis not linked to the myelin basic protein gene. The Lancet. 1993;341(8854):1179–81.
• 11. Haines J. Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity. The Multiple Sclerosis Genetics Group. Hum Mol Genet. 1998;7(8):1229–34.
• 12. Seboun E, Oksenberg JR, Rombos A, et al. Linkage analysis of candidate myelin genes in familial multiple sclerosis. Neurogenetics. 1999;2(3):155–62.
• 13. Harirchian MH, Fatehi F, Sarraf P, et al. Worldwide prevalence of familial multiple sclerosis: A systematic review and meta-analysis. Mult Scler Relat Disord. 2018;20:43–7.
• 14. Razazian N, Eskandarieh S, Siabani S, et al. Prevalence of Multiple sclerosis and its clinical and demographic characteristics in Kurdish populations in western Iran (2020). Mult Scler Relat Disord. 2022;57:103441.
• 15. Rojas JI, Patrucco L, MIguez J, et al. Disease onset in familial and sporadic multiple sclerosis in Argentina. Mult Scler Relat Disord. 2016;6:54–6.
• 16. Ceccarelli A, Mifsud VA, Dogar A. Demographic and clinical characteristics of familial and sporadic multiple sclerosis: A single center exploratory study from Abu Dhabi. Journal of Clinical Neuroscience. 2020;76:145–7.
• 17. Farez MF, Balbuena Aguirre ME, Varela F, et al. Low familial risks for multiple sclerosis in Buenos Aires, Argentina. J Neurol Sci. 2014;346(1–2):268–70.
• 18. Smagina I V., Elchaninova EYu, Elchaninova SA. Multiple sclerosis in the Altai region of Russia: a prospective epidemiological study. Zhurnal nevrologii i psikhiatrii im SS Korsakova. 2019;119(2):7.
• 19. Fernández-Pérez MJ, Barakat O, García-Moreno JM, ve ark. Características clínicas de la esclerosis múltiple familiar en España [Clinical features of familial multiple sclerosis in Spain]. Rev Neurol. 1999;29(8):693-6.
• 20. Alifirova VM, Titova MA, Terskikh EV, Musina NF, Sjomkina AA, Gumenyuk YS. Familial multiple sclerosis in Tomsk region. Zhurnal nevrologii i psikhiatrii im SS Korsakova. 2016;116(10):6-9.
• 21. Balcerac A, Louapre C. Genetics and familial distribution of multiple sclerosis: A review. Rev Neurol (Paris). 2022;178(6):512–20

Toplam 21 adet kaynakça vardır.

Ayrıntılar

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