Early onset Parkinsonism associated with an intronic SOD1 mutation.
Amyotroph Lateral Scler
; 13(3): 315-7, 2012 May.
Article
em En
| MEDLINE
| ID: mdl-22214312
ABSTRACT
We report on a patient belonging to a large family with autosomal-dominant amyotrophic lateral sclerosis, who developed asymmetrical akineto-rigid symptoms at 33 years of age. He had no signs of lower motor neuron disease after four years of follow-up. All seven ALS patients from this family harboured a mutation located in the fourth intron of the SOD1 gene. The proband also harboured the same mutation, associated with a 40% decrease in SOD1 erythrocyte activity. This case report suggests that SOD1 mutations might be associated with marked phenotypic variability (ALS or early onset Parkinsonism in this family).
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Base de dados:
MEDLINE
Assunto principal:
Superóxido Dismutase
/
Transtornos Parkinsonianos
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Mutação
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article