title: Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis.
abstract: 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 patient had a 12-year history of disease characterized by slow progression. Clinical examination at last follow-up revealed predominant upper motor neuron (p-UMN) involvement, with atrophies only in distal muscle of upper limbs. Electrophysiological examination revealed lower and upper motor neuron involvement. Family history was negative for neurological disease. This report shows that D90A in heterozygous state may cause p-UMN phenotype with very slow progression.
authors.affiliation: Istituto di Neurologia Pol A: Gemelli, Largo Gemelli 8, 00168 Rome, Italy. mluigetti@gmail.com
authors.forename: Marco
authors.initials: M
authors.lastname: Luigetti
authors.forename: Amelia
authors.initials: A
authors.lastname: Conte
authors.forename: Francesca
authors.initials: F
authors.lastname: Madia
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Marangi
authors.forename: Marcella
authors.initials: M
authors.lastname: Zollino
authors.forename: Irene
authors.initials: I
authors.lastname: Mancuso
authors.forename: Michele
authors.initials: M
authors.lastname: Dileone
authors.forename: Alessandra
authors.initials: A
authors.lastname: Del Grande
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Di Lazzaro
authors.forename: Pietro Attilio
authors.initials: PA
authors.lastname: Tonali
authors.forename: Mario
authors.initials: M
authors.lastname: Sabatelli
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000503:physiopathology*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005190:Family; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000235:genetics* / Q000503:physiopathology*; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D013482:Superoxide Dismutase / Q000235:genetics* / Q000378:metabolism*; D000072105:Superoxide Dismutase-1; D013997:Time Factors
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1
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