Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri

BOZ, PINAR BENGİ; KOCATÜRK SEL, SABRIYE; Kasap, Halil; Koc, Filiz; Guzel, Ali İrfan

Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri

Pınar Bengi BOZ, (Adana Numune Eğitim ve Araştırma Hastanesi, Nöroloji Kliniği, Adana, Türkiye)

AYŞE FİLİZ KOÇ, (Çukurova Üniversitesi Tıp Fakültesi, Nöroloji Anabilim Dalı, Adana, Türkiye)

Sabriye KOCATÜRK SEL, (Çukurova Üniversitesi Tıp Fakültesi, Tıbbi Biyoloji Anabilim Dalı, Adana, Türkiye)

Ali İrfan GÜZEL, (Recep Tayyip Erdoğan Üniversitesi Tıp Fakültesi, Tıbbi Biyoloji Anabilim Dalı, Rize, Türkiye)

Halil KASAP (Çukurova Üniversitesi Tıp Fakültesi, Tıbbi Biyoloji Anabilim Dalı, Adana, Türkiye)

Nöropsikiyatri Arşivi

40 0

Yıl: 2016 Cilt: 53 Sayı: 2 Sayfa Aralığı: 115 - 119 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022

Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri

Öz:

Amaç: Bu çalışmada klinik, elektrofizyolojik bulgular ışığında herediter ataksi olarak değerlendirilen olguların moleküler genetik incelemeleri de dikkate alınarak Freidreich Ataksisi (FA) ve otozomal dominant Spino Serebellar Ataksi (SCA) 1, 2, 3 ve 6 açısından genotipik ve fenotipik yönden irdelenmesi amaçlanmıştır. Yöntem: Çalışmaya Nöroloji kliniğine başvuran, klinik, laboratuar ve elektrofizyolojik bulgular eşliğinde herediter serebellar ataksi olarak tanınan 129 indeks olgu yanı sıra aile taraması sonucu 15 kardeş hasta (toplam144 olgu) alınmış ve genetik analizleri yapılmıştır. Olguların ayrıntılı fizik ve nörolojik muayene, pedigri analizi, elektronörografi, uyarılmış potansiyel çalışmaları, serebral-spinal manyetik rezonans görüntüleme (MR) ve ekokardiyografik incelemeleri yapılmıştır. Hastalardan kan örneği alınarak Freidreich ataksisi yanı sıra SCA 1, 2, 3 ve 6 açısından moleküler genetik çalışmalar yapılmış, verilerin istatistiksel analizinde SPSS (Statistical Package for the Social Sciences Inc; Chicago, IL, ABD) 17,0 paket programı kullanılmıştır. Bulgular: Olguların %50'ye yakını Freidreich ataksisi olarak tanınırken iki olgu SCA 1, iki olgu ise SCA 6 olarak tanınmıştır. Sonuç: Serimizde herediter zeminde gelişen serebellar ataksili olguların %47,2'sini FA'lı hastalar oluşturmuş olup otozomal dominant kalıtılan spinoserebellar ataksilerden SCA1 ve SCA6 birer ailede saptanmıştır. Bu veriler herediter zeminde geliştiğini düşündüğümüz serebellar ataksili bir hasta ile karşı karşıya kaldığımızda olgunun öncelikli olarak FA yönünden değerlendirmemiz gerektiğini göstermektedir.

Anahtar Kelime:

Konular: Nörolojik Bilimler Psikiyatri

Determination of Genotypic and Phenotypic Characteristics of Friedreich’s Ataxia and Autosomal Dominant Spinocerebellar Ataxia Types 1, 2, 3, and 6

Öz:

Introduction: This study aimed to analyze the genotypic characteristics of Friedreich’s ataxia (FA) and autosomal dominant ataxias [such as spinocerebellar ataxia (SCA) types 1, 2, 3, and 6] using molecular and biological methods in hereditary cerebellar ataxia considering both clinical and electrophysiological findings. Methods: The study included 129 indexed cases, who applied to the neurology department and were diagnosed with hereditary cerebellar ataxia through clinical, laboratory, and electrophysiological findings, and 15 sibling patients who were diagnosed through family scanning (144 cases in total); their genetic analyses were also performed. Detailed physical and neurological examinations, pedigree analyses, electroneurography, evoked potentials, cerebral–spinal magnetic resonance imaging, and echocardiographic analyses were performed for all cases. Blood samples were collected from patients, and the genotypic characteristics of autosomal dominant SCA types 1, 2, 3, and 6 were investigated. Statistical analyses were performed with the Statistical Package for the Social Sciences (SPSS Inc; Chicago, IL, USA) 17.0. Results: Almost 50% of patients were defined as FA. Moreover, two SCA1 cases and one SCA6 case were detected. Conclusion: In our study, 47.2% of patients with FA had developed hereditary cerebellar ataxia. Ground and autosomal dominant-linked SCA1 and SCA6 were each detected in one family. These data suggest that patients with cerebellar ataxia of hereditary origin should be primarily examined for FA.

Anahtar Kelime:

Konular: Nörolojik Bilimler Psikiyatri

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

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APA	BOZ P, Koc F, KOCATÜRK SEL S, Guzel A, Kasap H (2016). Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri. , 115 - 119.
Chicago	BOZ PINAR BENGİ,Koc Filiz,KOCATÜRK SEL SABRIYE,Guzel Ali İrfan,Kasap Halil Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri. (2016): 115 - 119.
MLA	BOZ PINAR BENGİ,Koc Filiz,KOCATÜRK SEL SABRIYE,Guzel Ali İrfan,Kasap Halil Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri. , 2016, ss.115 - 119.
AMA	BOZ P,Koc F,KOCATÜRK SEL S,Guzel A,Kasap H Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri. . 2016; 115 - 119.
Vancouver	BOZ P,Koc F,KOCATÜRK SEL S,Guzel A,Kasap H Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri. . 2016; 115 - 119.
IEEE	BOZ P,Koc F,KOCATÜRK SEL S,Guzel A,Kasap H "Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri." , ss.115 - 119, 2016.
ISNAD	BOZ, PINAR BENGİ vd. "Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri". (2016), 115-119.

APA	BOZ P, Koc F, KOCATÜRK SEL S, Guzel A, Kasap H (2016). Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri. Nöropsikiyatri Arşivi, 53(2), 115 - 119.
Chicago	BOZ PINAR BENGİ,Koc Filiz,KOCATÜRK SEL SABRIYE,Guzel Ali İrfan,Kasap Halil Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri. Nöropsikiyatri Arşivi 53, no.2 (2016): 115 - 119.
MLA	BOZ PINAR BENGİ,Koc Filiz,KOCATÜRK SEL SABRIYE,Guzel Ali İrfan,Kasap Halil Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri. Nöropsikiyatri Arşivi, vol.53, no.2, 2016, ss.115 - 119.
AMA	BOZ P,Koc F,KOCATÜRK SEL S,Guzel A,Kasap H Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri. Nöropsikiyatri Arşivi. 2016; 53(2): 115 - 119.
Vancouver	BOZ P,Koc F,KOCATÜRK SEL S,Guzel A,Kasap H Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri. Nöropsikiyatri Arşivi. 2016; 53(2): 115 - 119.
IEEE	BOZ P,Koc F,KOCATÜRK SEL S,Guzel A,Kasap H "Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri." Nöropsikiyatri Arşivi, 53, ss.115 - 119, 2016.
ISNAD	BOZ, PINAR BENGİ vd. "Freidreich Ataksisi ve Spinoserebellar Ataksi Tip 1, 2, 3 ve 6’nın Genotipik ve Fenotipik Özellikleri". Nöropsikiyatri Arşivi 53/2 (2016), 115-119.