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Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation.
- Source :
-
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration . May2017, Vol. 18 Issue 3/4, p296-297. 2p. - Publication Year :
- 2017
-
Abstract
- We report the third case of amyotrophic lateral sclerosis related to p.E121G Superoxide dismutase-1 (SOD1) mutation. Besides a sporadic presentation and a slow progressive course, as described in the 2 previously cases, our patient presented with prominent sensory and cerebellar signs. This case report strengthens that p.E121G should be considered as a causal mutation. Slowly upper and lower motor neuron degeneration, even with non-motor clinical features, should prompt a sequencing of SOD1. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 21678421
- Volume :
- 18
- Issue :
- 3/4
- Database :
- Academic Search Index
- Journal :
- Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
- Publication Type :
- Academic Journal
- Accession number :
- 122836537
- Full Text :
- https://doi.org/10.1080/21678421.2016.1255756