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Article

Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2009

Luigetti Marco, Conte Amelia, Madia Francesca, Marangi Giuseppe, Zollino Marcella, Mancuso Irene, Dileone Michele, Del Grande Alessandra, Di Lazzaro Vincenzo, Tonali Pietro Attilio, Sabatelli Mario

Abstract excerpt

Of all the SOD1 gene mutations described, uniquely the D90A mutation has been identified in recessive, dominant, and apparently sporadic cases. We describe a patient with a sporadic form of amyotrophic lateral sclerosis (ALS) in which a heterozygous A > C exchange at position 272 in the SOD1 gene was detected. This mutation results in an amino acid substitution of alanine for aspartate at position 90 (D90A). The...

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PMID: 19685200
DOI: 10.1007/s10072-009-0125-8

Genes

SOD1

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