Muscle Nerve
Department of Neurology, University of Florida College of Medicine and McKnight Brain Institute, Gainesville, Florida 32610, USA.
Published: October 2011
Introduction: A Gly41Ser mutation in the superoxide dismutase 1 gene (SOD1) has been reported to cause a very rapid course of amyotrophic lateral sclerosis (ALS) in a limited number of Italian patients, but a Gly41Asp mutation results in a more benign course.
Methods: Four members of an African American family with autosomal dominant ALS were evaluated clinically over 12 years. Mutation analysis of SOD1 was done on 1 patient.
Results: All patients had a pure lower motor neuron syndrome with onset to death in 9-15 months. A Gly41Ser mutation in SOD1 was established. In silico modeling suggested that this mutation can have a more deleterious effect than a Gly41Asp mutation.
Conclusion: The more rapid course of ALS with the Gly41Ser SOD1 mutation is confirmed in a distinct ethnic group.
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http://dx.doi.org/10.1002/mus.22117 | DOI Listing |
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