6 Citazioni (Scopus)


We report longitudinal clinical and neurophysiological assessments in twins affected by spinal muscular atrophy (SMA) with discordant phenotypes. The boy had the homozygous deletion of SMN1, a typical type 1 SMA course, and died at the age of eight months. His twin sister, asymptomatic at the time of the diagnosis in her brother, had the same genetic defect but she developed clinical and electrophysiological signs of type 2 SMA. The reduction of tendon reflexes was the first clinical sign at the age of 4 months, followed within few weeks, by a mild decrement in the amplitude of the compound motor action potentials. After the age of 9 months, she showed a sudden clinical and electrophysiological deterioration. Among molecular tests, we determined SMN2 copy number, SMN2 and Plastin 3 transcript levels in peripheral blood, and observed no relevant differences between twins.
Lingua originaleEnglish
pagine (da-a)890-893
Numero di pagine4
RivistaNeuromuscular Disorders
Stato di pubblicazionePubblicato - 2017


  • CMAP
  • Female
  • Gene Dosage
  • Genetics (clinical)
  • Homozygote
  • Humans
  • Infant
  • Male
  • Modifiers
  • Motor Neurons
  • Muscular Atrophy, Spinal
  • Neurology
  • Neurology (clinical)
  • Pediatrics, Perinatology and Child Health
  • Pedigree
  • Phenotype
  • Phenotypes
  • Sequence Deletion
  • Spinal muscular atrophy
  • Survival of Motor Neuron 1 Protein
  • Twins


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