A novel L67P SOD1 mutation in an Italian ALS patient.

Giuseppe Marangi, Marcella Zollino, Mario Sabatelli, Alessandra Del Grande, Marco Luigetti, Amelia Conte, Irene Mancuso, Serena Lattante, Giuseppe Stipa

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons. We describe a novel L67P mutation located in exon 3 of the Cu/Zn superoxide dismutase gene in a patient with pure lower motor neuron signs. To date, 11 mutations involving exon 3 of SOD1 have been described, including the present one. Our data confi rm that variable penetrance and predominant lower motor neuron involvement are common characteristics in patients bearing mutations in exon 3 of the SOD1 gene.
Original languageEnglish
Pages (from-to)150-152
Number of pages3
JournalAmyotrophic Lateral Sclerosis
Volume12
DOIs
Publication statusPublished - 2011

Keywords

  • Amyotrophic lateral sclerosis
  • SOD1
  • exon 3
  • lower motor neuron

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