AMIOTROPHIC LATERAL SCLEROSIS IN PATIENTS WITH EXPANSION IN THE C9ORF72 GENE: DESCRIPTION OF CLINICAL CASES
- Authors: Razinskaya O.D1
-
Affiliations:
- FSBEI HE RNSMU n.a. N.I. Pirogov of RMH
- Issue: No 9 (2017)
- Pages: 108-111
- Section: Articles
- URL: https://journals.eco-vector.com/2073-4034/article/view/289879
- ID: 289879
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Abstract
There are some literature data on the features of the clinical manifestation and course of the amyotrophic lateral sclerosis (ALS) in patients with different genetic mutations. A recently discovered mutation in the C90RF72 gene in patients with ALS has the characteristic clinical features of the course of the disease - rapid progression (survival less than 3 years) and generalization of the process with the development of severe motor, bulbar symptoms and severe respiratory failure, cognitive impairment and emotional lability. Clinical cases of ALS in two patients with a mutation in the C90RF72 gene are discussed.
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About the authors
O. D Razinskaya
FSBEI HE RNSMU n.a. N.I. Pirogov of RMH
Email: july2000@mail.iu
Teaching Assistant at the Department of Fundamental and Clinical Neurology and Neurosurgery MBF
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