期刊
AMYOTROPHIC LATERAL SCLEROSIS
卷 13, 期 3, 页码 315-317出版社
INFORMA HEALTHCARE
DOI: 10.3109/17482968.2011.623301
关键词
ALS; FALS; Parkinsonism; SOD1
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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