Discover Community Create You

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

Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.

Acta neurologica Belgica - 1 Apr 2024

Divya K P, Cherian Ajith, Dhing Hemanga Kumar, Kumar Savith, Thomas Bejoy, Faruq Mohammed

Abstract excerpt

BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), classically presenting as a triad of early-onset cerebellar ataxia, lower extremity spasticity and peripheral neuropathy, is caused by mutations in SACS gene which encodes the protein sacsin. OBJECTIVE: To provide new insight into the occurrence of SACS mutations in South India. METHODS: Patients with three cardinal features of...

Read the complete abstract on PubMed

Topics

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

Share to Atrophy
Share to Cerebellar Ataxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diffusion Tensor Imaging

Share to Muscle Spasticity

Share to Mutation

Share to Peripheral Nervous System Diseases

Share to Spinocerebellar Ataxias

Share to Young Adult

Source

Identifiers

PMID: 37898963
DOI: 10.1007/s13760-023-02400-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.PMID 37898963Read ↗

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

Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.Semantic proximity Read ↗

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.Semantic proximity Read ↗

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.Semantic proximity Read ↗

Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.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: From Classic to Charcot–Marie–Tooth Disease-Mimicking Phenotypes in a Single-Center Japanese CohortSemantic proximity Read ↗

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.Semantic proximity Read ↗

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.Semantic proximity Read ↗

First case of Autosomal recessive spastic ataxia of Charlevoix-Saguenay in the Middle eastSemantic proximity Read ↗

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

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.Semantic proximity Read ↗

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