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SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.
- Source :
- Amyotrophic Lateral Sclerosis; Oct-Dec2009, Vol. 10 Issue 5/6, p479-482, 4p, 1 Diagram, 1 Chart, 1 Graph
- Publication Year :
- 2009
-
Abstract
- We describe a patient with a familial form of amyotrophic lateral sclerosis (ALS) in which a heterozygous G > A exchange at position 1087 in the SOD1 gene was detected. This mutation results in an amino acid substitution of aspartate for glycine at position 93 (G93D). The patient had a five-year history of fasciculations in all four limbs, with no clear evidence of muscular atrophy or weakness at last follow-up. However, electrophysiological examination revealed lower and upper motor neuron involvement. His mother and a cousin had died of ALS after prolonged disease. This report shows that G93D may cause a form of ALS with slow progression, long-lasting paucisymptomatic phase and both lower and upper motor neuron involvement. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 17482968
- Volume :
- 10
- Issue :
- 5/6
- Database :
- Complementary Index
- Journal :
- Amyotrophic Lateral Sclerosis
- Publication Type :
- Academic Journal
- Accession number :
- 45278056
- Full Text :
- https://doi.org/10.3109/17482960802302261