SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.

Giuseppe Marangi, Marcella Zollino, Mario Sabatelli, Marco Luigetti, Francesca Madia, Amelia Conte, Alessandra Del Grande, Michele Di Leone, Pietro Attilio Tonali

Risultato della ricerca: Contributo in rivistaArticolo in rivista

11 Citazioni (Scopus)

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 originaleEnglish
pagine (da-a)479-482
Numero di pagine4
RivistaAmyotrophic Lateral Sclerosis
Stato di pubblicazionePubblicato - 2009

Keywords

  • ALS
  • SOD1

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