FUS G559A Mutation in a Patient with a Frontotemporal Dementia-Motor Neuron Disease Compatible Syndrome: A Case Report

Russell H Swerdlow; Omar Jawdat; Liskin Swint-Kruse; Ryan Townley

doi:10.3233/ADR-230103

FUS G559A Mutation in a Patient with a Frontotemporal Dementia-Motor Neuron Disease Compatible Syndrome: A Case Report

J Alzheimers Dis Rep. 2023 Oct 9;7(1):1121-1126. doi: 10.3233/ADR-230103. eCollection 2023.

Authors

Russell H Swerdlow^{1

2

3

4}, Omar Jawdat², Liskin Swint-Kruse⁴, Ryan Townley^{1

2}

Affiliations

¹ University of Kansas Alzheimer's Disease Research Center, University of Kansas Medical Center, Kansas City, KS, USA.
² Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA.
³ Department of Cell Biology and Physiology, University of Kansas Medical Center, Kansas City, KS, USA.
⁴ Department of Biochemistry and Molecular Biology, University of Kansas Medical Center, Kansas City, KS, USA.

Abstract

Fused in sarcoma (FUS) mutations cause frontotemporal dementia (FTD) and motor neuron disease (MND). Here, we describe a 43-year-old man with progressive behavioral and cognitive change, myelopathy, clinical and electrophysiologic evidence of MND, and a FUS variant of unknown significance (VUS). This VUS, a heterozygous G559A transition (Gly187Ser), was previously reported in a patient with sporadic MND and affects important FUS biophysical properties. While this rare variant's presence in a second patient with a related neurodegenerative syndrome does not establish pathogenicity, it raises the question of whether its association with our patient is coincidental and increases the possibility that FUS G559A is pathogenic.

Keywords: Case report; FUS; frontotemporal dementia; motor neuron disease.

Publication types

Case Reports