Young-onset rapidly progressive ALS associated with heterozygous FUS mutation

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Aug;18(5-6):451-453. doi: 10.1080/21678421.2017.1299762. Epub 2017 Mar 13.

Abstract

We report a 36-years-old Cape Verdean man who presented with respiratory insufficiency due to rapidly progressive sporadic amyotrophic lateral sclerosis (ALS), in whom FUS mutation c.1551C > G (p.Hist517Gln) in heterozygosity was identified, a finding previously described as non-pathogenic. The only previous report on this mutation was in a family from Cape Verde in which four members developed ALS; all were homozygous for the mutation. This case shows that this FUS mutation presents a highly variable penetrance and expressivity.

Keywords: Amyotrophic lateral sclerosis; Cape Verde; FUS mutation; dominant transmission; young-onset.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amyotrophic Lateral Sclerosis / diagnosis*
  • Amyotrophic Lateral Sclerosis / genetics*
  • Disease Progression*
  • Heterozygote*
  • Humans
  • Male
  • Mutation / genetics*
  • RNA-Binding Protein FUS / genetics*

Substances

  • FUS protein, human
  • RNA-Binding Protein FUS

Supplementary concepts

  • Amyotrophic lateral sclerosis 1