Young-onset rapidly progressive ALS associated with heterozygous FUS mutation

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
• dominant transmission
• FUS mutation
• young-onset

Acknowledgements

This work was partially supported by OnWebDuals project (JPND-PS/0001/2013) and MG holds a grant from the project. This is an EU Joint Programme - Neurodegenerative Disease Research (JPND) project. The project is supported through the following funding organisation under the aegis of JPND - www.jpnd.eu: Germany, Bundesministerium für Bildung und Forschung (BMBF); Poland, Narodowe Centrum Badań i Rozwoju (NCBiR); Portugal, Fundação a Ciência e a Tecnologia (FCT); Sweden, Vetenskapsrådet (VR).

All procedures performed were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Declaration of interest

The authors report no conflicts of interest.