Vocal cord paralysis and rapid progressive motor neuron disease by the I113F mutation in SOD1 gene.
Amyotroph Lateral Scler
; 12(5): 382-4, 2011 Sep.
Article
em En
| MEDLINE
| ID: mdl-21413851
ABSTRACT
Familial cases of amyotrophic lateral sclerosis are most frequently caused by mutation in the superoxide dismutase-1 (SOD1) gene. We report a heterozygous I113F mutation in a patient with familial ALS characterized by early and predominant bilateral vocal cord paralysis followed by descending spinal cord paresis. Modelling of the mutant SOD1 showed an alteration of the protein secondary structure leading to impaired strength of the dimer interface. This may result in a failure of the protein folding and subsequently generation of toxic intracellular aggregates, suggesting a pathogenic role for the mutation.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Superóxido Dismutase
/
Paralisia das Pregas Vocais
/
Doença dos Neurônios Motores
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Progressão da Doença
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Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article