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.
Lingua originale | English |
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pagine (da-a) | 479-482 |
Numero di pagine | 4 |
Rivista | Amyotrophic Lateral Sclerosis |
DOI | |
Stato di pubblicazione | Pubblicato - 2009 |
Keywords
- ALS
- SOD1