Affordable Access

deepdyve-link
Publisher Website

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

Authors
  • Wu, Ying1
  • Li, Chunyu1
  • Yang, Tianmi1
  • Lin, Junyu1
  • Shang, Huifang1
  • 1 Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatric, West China Hospital, Sichuan University, Chengdu, China. , (China)
Type
Published Article
Journal
Amyotrophic lateral sclerosis & frontotemporal degeneration
Publication Date
May 01, 2022
Volume
23
Issue
3-4
Pages
313–314
Identifiers
DOI: 10.1080/21678421.2021.1927100
PMID: 34074186
Source
Medline
Keywords
Language
English
License
Unknown

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.

Report this publication

Statistics

Seen <100 times