Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene

S. H. Subramony; Tetsuo Ashizawa; Leigh Langford; Robert McKenna; Balu Avvaru; Teepu Siddique; V. Vedanarayanan

doi:10.1002/mus.22117

Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene

S. H. Subramony, Tetsuo Ashizawa, Leigh Langford, Robert McKenna, Balu Avvaru, Teepu Siddique, V. Vedanarayanan

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	499-502
Number of pages	4
Journal	Muscle and Nerve
Volume	44
Issue number	4
DOIs	https://doi.org/10.1002/mus.22117
State	Published - Oct 2011

Keywords

ALS
Disease course
Pathogenicity
Phenotype-genotype
Sod1 mutation

ASJC Scopus subject areas

Physiology
Clinical Neurology
Cellular and Molecular Neuroscience
Physiology (medical)

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10.1002/mus.22117

Cite this

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title = "Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene",

abstract = "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.",

keywords = "ALS, Disease course, Pathogenicity, Phenotype-genotype, Sod1 mutation",

author = "Subramony, {S. H.} and Tetsuo Ashizawa and Leigh Langford and Robert McKenna and Balu Avvaru and Teepu Siddique and V. Vedanarayanan",

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T1 - Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene

AU - Subramony, S. H.

AU - Ashizawa, Tetsuo

AU - Langford, Leigh

AU - McKenna, Robert

AU - Avvaru, Balu

AU - Siddique, Teepu

AU - Vedanarayanan, V.

PY - 2011/10

Y1 - 2011/10

N2 - 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.

AB - 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.

KW - ALS

KW - Disease course

KW - Pathogenicity

KW - Phenotype-genotype

KW - Sod1 mutation

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Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene

Abstract

Keywords

ASJC Scopus subject areas

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