Research By Disease – CheckOrphan

Disease: Spastic ataxia Charlevoix-Saguenay type

In vitro study of polydopamine nanoparticles as protective antioxidant agents in fibroblasts derived from ARSACS patients
A mitochondrial-targeted antioxidant (MitoQ) improves motor coordination and reduces Purkinje cell death in a mouse model of ARSACS
A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases
A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay
A rehabilitation program to increase balance and mobility in ataxia of Charlevoix-Saguenay: An exploratory study
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene
Absent Foveal Avascular Zone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin
Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS
An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up
An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study
An Unusual Fundus Finding in a Teenage Girl
Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay
Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias
ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India
Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures
Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the SACS Gene
Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
Cannabis use in patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Case 293: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay
Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra
Clinical and molecular studies in two new cases of ARSACS
Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population
Clinical Reasoning: Complex ataxia: Unpicking the threads
Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS
Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study
Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Current and Promising Therapies in Autosomal Recessive Ataxias
Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay
Diagnostic Optic Nerve Features in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Diplomyelia in a patient with a clinical suspicion of autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS)
Docosahexaenoic acid in ARSACS: observations in two patients
Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome
Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish
Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay
Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean
Family planning decisional needs assessment for recessive hereditary disorders: Insights from carrier couples and professionals
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay
Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy
Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene
Genetic analysis of a child with Charlevoix-Saguenay spastic ataxia due to variant of SACS gene
Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration
Guidance on medical physics expert support for nuclear medicine
Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS
Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay
Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆
Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model
Measurement properties of a new wireless electrogoniometer for quantifying spasticity during the pendulum test in ARSACS patients
Measurement properties of wheelchair use assessment tools in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay
Movement disorders in mitochondrial diseases
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study
Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization
Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study
Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound
Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia
Optical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay
Participation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay
Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder
Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)
Recessive ataxias
Reliability and validity of digital health metrics for assessing arm and hand impairments in an ataxic disorder
Research advance on the pathogenesis of autosomal recessive spastic ataxia of Charlevoix-Saguenay
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients
Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
Retinal nerve fiber layer thickening in ARSACS carriers
Sacs R272C missense homozygous mice develop an ataxia phenotype
Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics
Short Review: Investigating ARSACS: models for understanding cerebellar degeneration
Spastic ataxia of Charlevoix-Saguenay: Diagnosis made on fundus examination
Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review
Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS
Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings
Teaching Video NeuroImages: Spastic ataxia syndrome: The Friedreich-like phenotype of ARSACS
The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics
The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies
The J Domain of Sacsin Disrupts Intermediate Filament Assembly
Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study
Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood
Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Validity and reliability of the LEMOCOT in the adult ARSACS population: A measure of lower limb coordination
Wheelchair mobility, motor performance and participation of adult wheelchair users with ARSACS: a cross-sectional study
Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients