Taylor and Francis Group, Amyotrophic Lateral Sclerosis, p. 1-4
DOI: 10.1080/17482960802302261
Taylor and Francis Group, Amyotrophic Lateral Sclerosis, 5-6(10), p. 479-482
DOI: 10.3109/17482960802302261
Full text: Unavailable
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.