Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.

Neuroscience letters - 1 May 2021

Wang Zhanjun, Song Yang, Wang Xianling, Li Xuying, Xu Fanxi, Si Lianghao, Dong Yue, Yao Tingyan, Zhu Junge, Lai Hong, Li Wei, Lin Feng, Huang Huapin, Wang Chaodong

Abstract excerpt

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary disease characterized by cerebellar ataxia, pyramidal signs in lower limbs, and sensorimotor neuropathy. The disease is caused by bi-allelic mutations of the SACS gene encoding the sacsin protein. Over 200 mutations have been reported worldwide. Here, we report two unrelated Chinese ARSACS patients with novel mutations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Exome Sequencing

Share to Heat-Shock Proteins

Share to Muscle Spasticity

Share to Mutation

Share to Spinocerebellar Ataxias

Source

Identifiers

PMID: 33746006
DOI: 10.1016/j.neulet.2021.135831

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.PMID 33746006Read ↗

A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.Semantic proximity Read ↗

A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.Semantic proximity Read ↗

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.Semantic proximity Read ↗

A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient.Semantic proximity Read ↗

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.Semantic proximity Read ↗

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.Semantic proximity Read ↗

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.Semantic proximity Read ↗

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.Semantic proximity Read ↗

Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia.Semantic proximity Read ↗

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.Semantic proximity Read ↗

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.Semantic proximity Read ↗

Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.