期刊
AMYOTROPHIC LATERAL SCLEROSIS
卷 10, 期 5-6, 页码 479-482出版社
INFORMA HEALTHCARE
DOI: 10.3109/17482960802302261
关键词
Amyotrophic lateral sclerosis; SOD1; slow progression
资金
- Fondazione Roma
- Association for ALS Research I.CO.M.M. Onlus, Rome, Italy
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.
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