The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study

F. D. Tiziano, E. Bertini, S. Messina, C. Angelozzi, M. Pane, A. D'Amico, P. Alfieri, S. Fiori, R. Battini, A. Berardinelli, P. Boffi, C. Bruno, C. Cini, C. Minetti, T. Mongini, L. Morandi, S. Orcesi, M. Pelliccioni, A. Pini, M. VillanovaG. Vita, M. Locatelli, E. Mercuri, C. Brahe

Research output: Contribution to journalArticlepeer-review

Abstract

Previous studies showed that SMN2 copy number correlates inversely with the disease severity. Our aim was to evaluate SMN2 copy numbers and the Hammersmith functional motor scale in 87 patients with SMA II in order to establish whether, within SMAII, the number of copies correlates with the severity of functional impairment. Our results showed a relative variability of functional scores, but a significant correlation between the number of SMN2 genes and the level of function.

Original languageEnglish
Pages (from-to)400-403
Number of pages4
JournalNeuromuscular Disorders
Volume17
Issue number5
DOIs
Publication statusPublished - May 2007

Keywords

  • Hammersmith functional motor scale
  • SMA
  • SMN1
  • SMN2
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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