Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay

Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay

Abstract Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare early-onset neurodegenerative disorder characterized by progressive cerebellar ataxia, spasticity, and sensorimotor peripheral neuropathy. This disorder is caused by homozygous or compound heterozygous variants in...

Full description

Saved in:
Bibliographic Details
Main Authors: Hui Liu, Ranran Li, Chen Chen, Lin Shang, Ying Bai, Duo Chen, Xiangdong Kong, Qianqian Li
Format: Article
Language:English
Published: BMC 2025-05-01
Series:BMC Medical Genomics
Subjects:
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Whole-exome sequencing
SACS
Gene mutation
Heterozygous gross deletion
Low-coverage whole-genome sequencing
Online Access:https://doi.org/10.1186/s12920-025-02151-2
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.1186/s12920-025-02151-2

Similar Items