Research & Literature

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

Kwon KY, Huh K, Eun BL, et al.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2015; (42(4)):271-3 doi:10.1017/cjn.2015.38.

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

Criscuolo C, Procaccini C, Meschini MC, et al.

Journal of neurology 2015; (262(12)):2755-63 doi:10.1007/s00415-015-7911-4.

Purkinje Cells Directly Inhibit Granule Cells in Specialized Regions of the Cerebellar Cortex.

Guo C, Witter L, Rudolph S, et al.

Neuron 2016; (91(6)):1330-1341 doi:10.1016/j.neuron.2016.08.011.

Retinal nerve fiber layer thickening in ARSACS carriers.

van Lint M, Hoornaert K, Ten Tusscher MPM

Journal of the neurological sciences 2016; (370()):119-122 doi:10.1016/j.jns.2016.09.023.

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

Lessard I, Lavoie C, Côté I, et al.

Journal of the neurological sciences 2017; (377()):193-196 doi:10.1016/j.jns.2017.03.046.

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

Krygier M, Konkel A, Schinwelski M, et al.

Neurologia i neurochirurgia polska 2017; (51(6)):481-485 doi:10.1016/j.pjnns.2017.08.003.

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

Bui HT, Audet O, Mathieu J, et al.

Journal of the neurological sciences 2017; (380()):68-73 doi:10.1016/j.jns.2017.07.013.

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

Parkinson MH, Bartmann AP, Clayton LMS, et al.

Brain : a journal of neurology 2018; (141(4)):989-999 doi:10.1093/brain/awy028.

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

Biswas A, Varman M, Yoganathan S, et al.

Neurology 2018; (90(14)):e1271-e1272 doi:10.1212/WNL.0000000000005252.

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

Lessard I, Brais B, Côté I, et al.

Journal of the neurological sciences 2018; (390()):4-9 doi:10.1016/j.jns.2018.03.033.

Spastic ataxias.

Bereznyakova O, Dupré N

Handbook of clinical neurology 2018; (155()):191-203 doi:10.1016/B978-0-444-64189-2.00012-3.

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

Ménade M, Kozlov G, Trempe JF, et al.

The Journal of biological chemistry 2018; (293(33)):12832-12842 doi:10.1074/jbc.RA118.003939.

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

Vogel AP, Rommel N, Oettinger A, et al.

Journal of neurology 2018; (265(9)):2060-2070 doi:10.1007/s00415-018-8950-4.

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

Gagnon C, Lessard I, Lavoie C, et al.

Neurology 2018; (91(14)):e1307-e1311 doi:10.1212/WNL.0000000000006290.

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

Gagnon C, Brais B, Lessard I, et al.

Orphanet journal of rare diseases 2018; (13(1)):165 doi:10.1186/s13023-018-0898-z.

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

Vill K, Müller-Felber W, Gläser D, et al.

Human genetics 2018; (137(11-12)):911-919 doi:10.1007/s00439-018-1952-6.

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

Artero Castro A, Machuca C, Rodriguez Jimenez FJ, et al.

Neuropathology and applied neurobiology 2019; (45(6)):531-537 doi:10.1111/nan.12540.

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

Briand MM, Rodrigue X, Lessard I, et al.

Journal of the neurological sciences 2019; (400()):39-41 doi:10.1016/j.jns.2019.03.008.

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

Kuchay RAH, Mir YR, Zeng X, et al.

Cerebellum (London, England) 2019; (18(4)):807-812 doi:10.1007/s12311-019-01028-2.

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.

Bourcier D, Bélanger M, Côté I, et al.

Journal of the neurological sciences 2020; (417()):117050 doi:10.1016/j.jns.2020.117050.

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.

Srikajon J, Pitakpatapee Y, Limwongse C, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2020; (10()):1 doi:10.5334/tohm.68.

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

Douglas VP, Douglas KAA, Miller JB, Gaier ED

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2021; (41(2)):e166-e168 doi:10.1097/WNO.0000000000001050.

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

Bourassa J, Routhier F, Gagnon C, et al.

Disability and rehabilitation. Assistive technology 2023; (18(4)):378-386 doi:10.1080/17483107.2020.1858195.

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

Habibzadeh P, Tabatabaei Z, Inaloo S, et al.

Frontiers in genetics 2020; (11()):585136 doi:10.3389/fgene.2020.585136.

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

Rezende Filho FM, Bremner F, Pedroso JL, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(9)):2027-2035 doi:10.1002/mds.28612.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.

Aida I, Ozawa T, Fujinaka H, et al.

Internal medicine (Tokyo, Japan) 2021; (60(24)):3963-3967 doi:10.2169/internalmedicine.7401-21.

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

Lessard I, St-Gelais R, Hébert LJ, et al.

Orphanet journal of rare diseases 2021; (16(1)):432 doi:10.1186/s13023-021-02054-2.

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

Longo F, De Ritis D, Miluzio A, et al.

Neurology 2021; (97(23)):e2315-e2327 doi:10.1212/WNL.0000000000012962.

Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS.

Nethisinghe S, Abeti R, Kesavan M, et al.

International journal of molecular sciences 2021; (22(21)) doi:10.3390/ijms222111722.

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

Bagaria J, Bagyinszky E, An SSA

International journal of molecular sciences 2022; (23(1)) doi:10.3390/ijms23010552.

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.

Durand CM, Angelini C, Michaud V, et al.

BMC neurology 2022; (22(1)):53 doi:10.1186/s12883-022-02553-0.

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

Kanzler CM, Lessard I, Gassert R, et al.

Annals of clinical and translational neurology 2022; (9(4)):432-443 doi:10.1002/acn3.51493.

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.

Santos M, Damásio J, Carmona S, et al.

Cells 2022; (11(6)) doi:10.3390/cells11060981.

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

Ashrafi MR, Mohammadi P, Tavasoli AR, et al.

Cerebellum (London, England) 2023; (22(4)):640-650 doi:10.1007/s12311-022-01430-3.

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

Aly KA, Moutaoufik MT, Zilocchi M, et al.

Current opinion in chemical biology 2022; (71()):102211 doi:10.1016/j.cbpa.2022.102211.

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

Lessard I, Masterman V, Côté I, et al.

PloS one 2022; (17(12)):e0279406 doi:10.1371/journal.pone.0279406.

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

Fu R, Ding M, Lu Z

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023; (40(1)):121-124 doi:10.3760/cma.j.cn511374-20211206-00967.

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

Zaman Q, Khan MA, Sahar K, et al.

Genes 2023; (14(2)) doi:10.3390/genes14020328.

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.

Louit A, Beaudet MJ, Blais M, et al.

Stem cells international 2023; (2023()):1496597 doi:10.1155/2023/1496597.

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

Lessard I, Côté I, St-Gelais R, et al.

Cerebellum (London, England) 2024; (23(2)):489-501 doi:10.1007/s12311-023-01558-w.

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

Márquez BT, Leung TCS, Hui J, et al.

Neurobiology of disease 2023; (183()):106157 doi:10.1016/j.nbd.2023.106157.

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

Divya KP, Cherian A, Dhing HK, et al.

Acta neurologica Belgica 2024; (124(2)):475-484 doi:10.1007/s13760-023-02400-0.

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

Kneer K, Straub S, Wittlinger J, et al.

Journal of neurology 2024; (271(5)):2494-2502 doi:10.1007/s00415-023-12159-2.

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

Scaravilli A, Negroni D, Senatore C, et al.

Movement disorders : official journal of the Movement Disorder Society 2024; (39(8)):1343-1351 doi:10.1002/mds.29871.

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

Chamova T, Ivanova N, Cherninkova S, et al.

Molecular genetics & genomic medicine 2024; (12(7)):e2483 doi:10.1002/mgg3.2483.

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

De Ritis D, Ferrè L, De Winter J, et al.

Brain communications 2024; (6(4)):fcae243 doi:10.1093/braincomms/fcae243.

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

Suarez MK, Martin TJ, Ong SS

Journal of vitreoretinal diseases 2024; (8(4)):466-470 doi:10.1177/24741264241251582.

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.

Raval MA, Holla VV, Kamble N, et al.

Journal of movement disorders 2024; (17(4)):430-435 doi:10.14802/jmd.24154.

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

Salem IH, Blais M, Zuluaga-Sánchez VM, et al.

Cerebellum (London, England) 2025; (24(1)):24 doi:10.1007/s12311-024-01777-9.

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

Liu H, Li R, Chen C, et al.

BMC medical genomics 2025; (18(1)):83 doi:10.1186/s12920-025-02151-2.

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

Cokyaman T, Saltik ZA, Turan NE

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2025; (85(3)):e70023 doi:10.1002/jdn.70023.

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

Niyomwungere E, Routhier F, Gagnon C, et al.

JMIR research protocols 2025; (14()):e66974 doi:10.2196/66974.

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.

Fortin J, Synofzik M, Pedneault-Tremblay ÉA, et al.

Movement disorders : official journal of the Movement Disorder Society 2026; doi:10.1002/mds.70201.