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Volume : 23 Issue : 3 Year : 2017

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Detected SOD1 (L144F) and C9orf72 Gen Mutation of Two Families and Overview of ALS [Turk J Neurol]
Turk J Neurol. Ahead of Print: TJN-26214

Detected SOD1 (L144F) and C9orf72 Gen Mutation of Two Families and Overview of ALS

Nazlı Gamze Bülbül1, Yaprak Seçil2, Nazlı Başak3, Yeşim Beckmann2, Hatice Sabiha Türe2, Ceren Tunca3, Aslıhan Özoğuz3
1Muş State Hospital Department of Neurology, Muş, Turkey
2Katip Çelebi University Faculty of Medicine, Atatürk Training and Research Hospital, Clinic of Neurology, İzmir, Turkey
3Boğaziçi University, Molecular Biology And Genetics Department, İstanbul, Turkey

Amiotrophic lateral sclerosis is a fatal neurodegenerative disease affecting both upper and lower motor neurons and its etiology is not totally known. The incidence of ALS is seen on 2 or 3 of every 100.000 people in the world. Although most of the ALS occurs sporadically, 5-10 % of these cases are indicated to have genetic inheritance. The most common gene mutations are known as C9orf72, SOD1, TDP43, FUS and Ubiquilin2. In our study, within the light of literature, we would like to represent three cases of familial ALS positive SOD1 and C9orf72 gene mutations which could be observed in details in our clinic in terms of its clinical, EMG and genetic findings.

Keywords: Familial ALS, SOD1, C9orf72




Corresponding Author: Nazlı Gamze Bülbül, Türkiye


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