학술논문
Amyotrophic lateral sclerosis with long lasting disease course and SOD1 and TARDBP mutations: Report of two cases and overview of the literature.
Document Type
Case Study
Author
Source
Subject
*DNA-binding proteins
*SUPEROXIDE dismutase
*AMYOTROPHIC lateral sclerosis
*MAGNETIC resonance imaging of the brain
*ELECTROMYOGRAPHY
*DNA analysis
*PATIENTS
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Language
ISSN
2167-8421
Abstract
The article presents case studies which discuss the association between amyotrophic lateral sclerosis (ALS) and mutations in copper/zinc superoxide dismutase (SOD1) and TAR DNA-binding protein (TARDBP) genes. Particular focus is given on the 70-years old white female and 55-years old Italian male who underwent neurological evaluation and other tests including brain and spine magnetic resonance imaging (MRI), electromyography, and molecular DNA analysis.