Microvascular abnormality in spinal muscular atrophy and its response to antisense oligonucleotide therapy

H. Zhou, H. Ying, M. Scoto, P. Brogan, S. Parson, F. Muntoni

Research output: Contribution to journalAbstract

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessively inherited neuromuscular disorder caused by homozygous deletion in the Survival Motor Neuron gene 1 (SMN1). While SMA is considered to be a lower motor neuron disease, increasing clinical and experimental reports indicate the involvement of additional peripheral organs in the pathogenesis of the disease. Vascular defects have been reported in some severe SMA infants and in transgenic mouse models of SMN deficiency. In this study, we have measured the expression of Vegf164 isoforms in SMA mice.
Original languageEnglish
Pages (from-to)S193
Number of pages1
JournalNeuromuscular Disorders
Volume25
Issue numberSuppl. 2
DOIs
Publication statusPublished - Oct 2015
Event20th International Congress of the World-Muscle-Society - Brighton
Duration: 30 Sep 20154 Oct 2015

Keywords

  • spinal muscular-atrophy
  • SMA
  • Survival Motor Neuron gene 1
  • SMN1

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