Longitudinal assessments in discordant twins with SMA

Marika Pane, Francesco Danilo Tiziano, Eugenio Maria Mercuri, Leonardo Lapenta, Emanuela Abiusi, Roberto De Sanctis, Marco Luigetti, Domiziana Ranalli

Risultato della ricerca: Contributo in rivistaArticolo in rivista

6 Citazioni (Scopus)

Abstract

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
Volume27
DOI
Stato di pubblicazionePubblicato - 2017

Keywords

  • 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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