期刊
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
卷 18, 期 3-4, 页码 296-297出版社
TAYLOR & FRANCIS LTD
DOI: 10.1080/21678421.2016.1255756
关键词
Amyotrophic lateral sclerosis; slow progression; multi-system involvement; SOD1 mutation
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.
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