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Two Families with SOD1 (L144F) and C9orf72 Gene Mutations and an Overview of Amyotrophic Lateral Sclerosis
- Source :
- Türk Nöroloji Dergisi, Vol 24, Iss 2, Pp 159-164 (2018)
- Publication Year :
- 2018
- Publisher :
- Galenos Yayinevi, 2018.
-
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.
Details
- Language :
- English
- ISSN :
- 13092545 and 1301062X
- Volume :
- 24
- Issue :
- 2
- Database :
- Directory of Open Access Journals
- Journal :
- Türk Nöroloji Dergisi
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.beff49f0e3be4d138637cacd4864079e
- Document Type :
- article
- Full Text :
- https://doi.org/10.4274/tnd.26214