Two Families with SOD1 (L144F) and C9orf72 Gene Mutations and an Overview of Amyotrophic Lateral Sclerosis
Nazlı Gamze Bülbül1
, Yaprak Seçil2, Nazlı Başak3(0000-0019-2573-540x), Yeşim Beckmann2(0000-0015-1588-834x), 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
3Bogazici University Faculty of Medicine, Department of Molecular Biology and Genetics, Istanbul, Turkey
Keywords: Familial amyotrophic lateral sclerosis, SOD1, C9orf72
Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects both upper and lower motor neurons and its etiology is not fully understood. The incidence of ALS is 2-3/100,000 people in the world. Although ALS occurs sporadically in most patients, 5-10% of patients are thought to have genetic inheritance. The most common gene mutations are C9orf72, superoxide dismutase 1 (SOD1), TDP43, FUS, and ubiquilin 2. In our study, within the light of the literature, we wanted to represent three patients with familial ALS who had SOD1 and C9orf72 gene mutations, who were observed in detail in our clinic in terms of clinical, electromyographic, and genetic findings.