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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...

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Hoofdauteurs: Hui Liu, Ranran Li, Chen Chen, Lin Shang, Ying Bai, Duo Chen, Xiangdong Kong, Qianqian Li
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMC 2025-05-01
Reeks:BMC Medical Genomics
Onderwerpen:
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Whole-exome sequencing
SACS
Gene mutation
Heterozygous gross deletion
Low-coverage whole-genome sequencing
Online toegang:https://doi.org/10.1186/s12920-025-02151-2
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