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.

Luigetti, M., Madia, F., Conte, A., Marangi, G., Zollino, M., Del Grande, A., Di Leone, M., Tonali, P. A., Sabatelli, M., SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis., <<AMYOTROPHIC LATERAL SCLEROSIS>>, 2009; (Ottobre): 479-482 [http://hdl.handle.net/10807/3476]

SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.

Luigetti, Marco;Madia, Francesca;Conte, Amelia;Marangi, Giuseppe;Zollino, Marcella;Del Grande, Alessandra;Di Leone, Michele;Tonali, Pietro Attilio;Sabatelli, Mario
2009

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.
Inglese
Luigetti, M., Madia, F., Conte, A., Marangi, G., Zollino, M., Del Grande, A., Di Leone, M., Tonali, P. A., Sabatelli, M., SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis., <>, 2009; (Ottobre): 479-482 [http://hdl.handle.net/10807/3476]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/3476
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 11
  • ???jsp.display-item.citation.isi??? 8
social impact