A case of juvenile-onset amyotrophic lateral sclerosis with a de novo frameshift FUS gene mutation presenting with bilateral abducens palsy

Ying Wu; Chunyu Li; Tianmi Yang; Junyu Lin; Huifang Shang

doi:10.1080/21678421.2021.1927100

A case of juvenile-onset amyotrophic lateral sclerosis with a de novo frameshift FUS gene mutation presenting with bilateral abducens palsy

Amyotroph Lateral Scler Frontotemporal Degener. 2022 May;23(3-4):313-314. doi: 10.1080/21678421.2021.1927100. Epub 2021 Jun 2.

Authors

Ying Wu¹, Chunyu Li¹, Tianmi Yang¹, Junyu Lin¹, Huifang Shang¹

Affiliation

¹ Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatric, West China Hospital, Sichuan University, Chengdu, China.

PMID: 34074186
DOI: 10.1080/21678421.2021.1927100

Abstract

Fused in sarcoma (FUS) is the most common causative gene in juvenile-onset amyotrophic lateral sclerosis (jALS). We presented a case of a 15-year-old Chinese girl with atypical and extremely rare bilateral abducens palsy was caused by a heterozygous c.1520del (p.Gly507Alafs*22) pathogenic frameshift mutation in the FUS gene revealed by whole-exome sequencing. This is the first jALS case presenting with bilateral abducens palsy and carrying de novo FUS genetic variant.

Keywords: FUS; Juvenile amyotrophic lateral sclerosis; abducens palsy; de novo mutation; ophthalmoplegia.

Publication types

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

MeSH terms

Abducens Nerve Diseases*
Adolescent
Amyotrophic Lateral Sclerosis* / complications
Amyotrophic Lateral Sclerosis* / diagnosis
Amyotrophic Lateral Sclerosis* / genetics
Female
Frameshift Mutation / genetics
Humans
Mutation
RNA-Binding Protein FUS / genetics

Substances

FUS protein, human
RNA-Binding Protein FUS