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- Title
SOD1 (L144F) ve C9orf72 Gen Mutasyonları Saptanan İki Aile ve Amiyotrofik Lateral Skleroza Genel Bakış.
- Authors
Bülbül, Nazlı Gamze; Seçil, Yaprak; Başak, Nazlı; Beckmann, Yeşim; Türe, Hatice Sabiha; Tunca, Ceren; Özoğuz, Aslıhan
- 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.
- Subjects
TURKEY; GENETICS of amyotrophic lateral sclerosis; ELECTROMYOGRAPHY; GENES; CASE studies; GENETIC mutation; PROTEINS; SUPEROXIDE dismutase; FAMILY history (Medicine)
- Publication
Turkish Journal of Neurology / Turk Noroloji Dergisi, 2018, Vol 24, Issue 2, p159
- ISSN
1301-062X
- Publication type
Article
- DOI
10.4274/tnd.26214