Peripheral Neuropathy-Predominant Adult-Onset Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Novel Variant in the SACS gene.

The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study.

Generation of eight human induced pluripotent stem cells lines from patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).

A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Half-Siblings.

Frameshift and Copy Number Variants in SACS-Related Neuropathy.

Nerve Ultrasound in Pediatric Polyneuropathies: A Systematic Review.

Teaching NeuroImage: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Syndrome: The Diagnostic Value of Structural MRI and Diffusion Tensor Imaging Biomarkers.

A Novel Homozygous KIF1C Variant in 2 Cases of Spastic Ataxia Type 2.

Novel SACS Variants not Recorded in ClinVar Identified in a Chinese Patient with Late-Onset Hereditary Neuropathy: a Case Report and Literature Review.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: A rare entity from Morocco in the Middle East and North Africa region.

Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.

Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report.

A Pharmacometrics-Informed Trial Simulation Framework for Optimizing Study Designs for Disease-Modifying Treatments in Rare Neurological Disorders.

Efficacy of Manual Wheelchair Skills Training for Improving Skills and Confidence in People With Hereditary Degenerative Disorders: Protocol for a Sequential Multimethods Study.

Sacsin deletion decreases cell viscoelasticity and motility in a glial cell model of autosomal recessive spastic ataxia of Charlevoix Saguenay.

Long-term benefits of TUDCA supplement in ARSACS zebrafish model.

Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS - 2-year Progression and Responsiveness to Change Part 1: Disease Severity, Swallowing, Upper Limb Function, and Participation.

A Novel Homozygous Frameshift Variant of SACS Gene in the Turkish Siblings With Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).

S100B Mitigates Cytoskeletal and Mitochondrial Alterations in a Glial Cell Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Shedding light on the dark: Night blindness in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Alterations in the Na+/H+ Exchanger NHE6 and Glutamate Transporters may Influence Purkinje Cell Fate in ARSACS.

Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS - 2-year Progression and Responsiveness to Change Part 2: Mobility, Balance, and Lower Limb Coordination.

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

Current and future applications of brain magnetic resonance imaging in ARSACS.

An Investigation of Corticospinal Tract Microstructural Integrity in ARSACS Using a Profilometry MRI Analysis: Results From the PROSPAX Study.

A Tailored Home-Based Training Program Improved Ataxia Severity and Participation in Adults With ARSACS.

Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS.

Modeling sacsin depletion in Danio Rerio offers new insight on retinal defects in ARSACS.

Altered Cellular Metabolism Is a Consequence of Loss of the Ataxia-Linked Protein Sacsin.

ARSACS: Clinical Features, Pathophysiology and iPS-Derived Models.

Longitudinal Imaging Biomarkers Correlate with Progressive Motor Deficit in the Mouse Model of Charlevoix-Saguenay Ataxia.

Longitudinal Analysis of Natural History Progression of Rare and Ultra-Rare Cerebellar Ataxias Using Item Response Theory.

Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX study.

Autosomal recessive spastic ataxia of charlevoix-saguenay (ARSACS)-first with tongue wasting, peripheral nerve thickening and a novel SACS gene mutation.

Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: Insights From a Case Series of Seven Patients-A Single-Center Study and Review of an Indian Cohort.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Secondary to a Novel Mutation in the SACS Gene.

Thickened Retinal Nerve Fiber Layer Without Hypermyelination in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

A human microglial cell model of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay.

Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Jiao's style scalp acupuncture combined with physiotherapy for autosomal recessive spastic ataxia of Charlevoix-Saguenay type: A case report.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients.

Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.

Proteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsin.

An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study.

Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX).

MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.

Driving Mitochondrial Fission Improves Cognitive, but not Motor Deficits in a Mouse Model of Ataxia of Charlevoix-Saguenay.

Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS).

Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound.

Behavioral Management of Respiratory/Phonatory Dysfunction for Dysarthria Associated With Neurodegenerative Disease: A Systematic Review.

Vestibular Hypofunction in ARSACS Syndrome: A Possible Pitfall in the Differential Diagnosis of Recessive Cerebellar and Afferent Ataxias.

Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study.

A Novel Mutation in Sacsin, p.Val1335IIe, May Cause Late-Onset Sacsinopathy Due to Haploinsufficiency.

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

A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration.

Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.

A mitochondrial-targeted antioxidant (MitoQ) improves motor coordination and reduces Purkinje cell death in a mouse model of ARSACS.

Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model.

Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.

In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Digital health metrics reveal upper limb impairment profiles in ARSACS.

Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases.

A novel single-point mutation of NEFH and biallelic SACS mutation presenting as intermediate form Charcot-Marie-Tooth: A case report in Vietnam.

[Research advance on the pathogenesis of autosomal recessive spastic ataxia of Charlevoix-Saguenay].

A rehabilitation program to increase balance and mobility in ataxia of Charlevoix-Saguenay: An exploratory study.

The J Domain of Sacsin Disrupts Intermediate Filament Assembly.

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

AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.

Diagnostic Optic Nerve Features in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization.

Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.

Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆.

The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics.

Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model.

Cannabis use in 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.

In vitro study of polydopamine nanoparticles as protective antioxidant agents in fibroblasts derived from ARSACS patients.

Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.

Participation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay.

A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature.

Reliability and validity of digital health metrics for assessing arm and hand impairments in an ataxic disorder.

Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.

A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia.

Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments.

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

Molecular Identity and Location Influence Purkinje Cell Vulnerability in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay Mice.

Family planning decisional needs assessment for recessive hereditary disorders: Insights from carrier couples and professionals.

Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS.

Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.

Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay.

Three Adult-Onset Autosomal Recessive Ataxias: What Adult Neurologists Need to Know.

Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish.

Case 293: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Novel Mutation in SACS Gene in a Patient with Autosomal Recessive Spastic Ataxia Charlevoix-Saguenay.

Optical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.

Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.

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

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology.

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

Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood.

Wheelchair mobility, motor performance and participation of adult wheelchair users with ARSACS: a cross-sectional study.

Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population.

Absent Foveal Avascular Zone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Measurement properties of wheelchair use assessment tools in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

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.

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.

Diplomyelia in a patient with a clinical suspicion of autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS).

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Case Report of a Novel Nonsense Mutation in the SACS Gene.

SACS Mutation-Positive Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS) from Kerala.

Development of Nanostructured Lipid Carriers for the Delivery of Idebenone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature.

Expanding the clinical and genetic heterogeneity of SPAX5.

Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings.

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.

Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.

A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.

Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay.

Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy.

ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.

Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Sacs R272C missense homozygous mice develop an ataxia phenotype.

Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS.

[Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay].

Clinical and molecular studies in two new cases of ARSACS.

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.

Short Review: Investigating ARSACS: models for understanding cerebellar degeneration.

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.

A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene.

Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics.

Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child.

From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Assessment of the impact of an exercise program on the physical and functional capacity in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay: An exploratory study.

An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up.

Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.

[Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay].

WITHDRAWN: Assessment of the impact of an exercise program on the physical and functional capacity in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay: An exploratory study.

Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations.

Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS.

Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures.

Current and Promising Therapies in Autosomal Recessive Ataxias.

Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings.

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication.

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

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

Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of 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.

p62/sequestosome-1 knockout delays neurodegeneration induced by Drp1 loss.

Validity and reliability of the LEMOCOT in the adult ARSACS population: A measure of lower limb coordination.

Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean.

Measurement properties of a new wireless electrogoniometer for quantifying spasticity during the pendulum test in ARSACS patients.

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.

Retinal nerve fiber layer thickening in ARSACS carriers.

Movement disorders in mitochondrial diseases.

Progressive myoclonus epilepsy associated with SACS gene mutations.

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

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

Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

High-Throughput Screening for Ligands of the HEPN Domain of Sacsin.

Structural studies of parkin and sacsin: Mitochondrial dynamics in neurodegenerative diseases.

Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient.

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.