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

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.

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine. This record was last updated on 06/16/2022 and may not reflect the most current and accurate biomedical/scientific data available from NLM. The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/34074186

Report this publication

Statistics

Seen <100 times