ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

Engert, James C., Bérubé, Pierre, Mercier, Jocelyne, Doré, Carole, Lepage, Pierre, Ge, Bing, Bouchard, Jean-Pierre, Mathieu, Jean +6 more·2000·Nature Genetics
DOI 10.1038/72769

Cited by (433)

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  11. A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration
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  13. HDAC inhibitor SAHA resolved intermediate filament bundling and defective autophagy caused by the lack of sacsin in ARSACS.
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  14. The inherited ataxias
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  17. Optical Coherence Tomography Findings in Rare Syndromic Optic Neuropathies
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  18. Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay
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  19. Frameshift and Copy Number Variants in SACS -Related Neuropathy
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  20. Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
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  21. Additional file 2 of Transcriptome analysis of gene expression profiling from the deep sea in situ to the laboratory for the cold seep mussel Gigantidas haimaensis
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  22. Additional file 1 of Transcriptome analysis of gene expression profiling from the deep sea in situ to the laboratory for the cold seep mussel Gigantidas haimaensis
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  23. Mort développementale des cellules de Purkinje
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  24. Hereditary spastic paraplegias : clinical spectrum in Sudan, further deciphering of the molecular bases of autosomal recessive forms and new genes emerging
    Liena E. O. Elsayed · 2016
  25. Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix–Saguenay spectrum
    Susumu Ikenoshita, Toshiya Nomura, Haruo Shimazaki, Hiroyuki Uetani, Nakahara Keiichi, Takahiro Okazaki, Michie Imamura, Hironori Mizutani, Aoi Fudo, Yuya Jo et al. · 2026 · Orphanet Journal of Rare Diseases
  26. Identification de nouveaux gènes d'ataxies récessives syndromiques : implication des désordres métaboliques modérés
    Claire Guissart · 2016 · theses.fr (ABES)
  27. Identifying candidate genes predisposing to hereditary spinocerebellar degeneration in a cohort of Sudanese families
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  28. Loss of SARM1 Improves Phenotypes in a Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
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  29. Hemizygous SACS Variant in a Czech Patient With Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay
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  30. The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS
    Vincenzo Sortino, Annamaria Sapuppo, Anastasia Bernabini, Xena Giada Pappalardo, Raffaele Falsaperla, Gabriele Di Pasquale, Vincenzo Salpietro · 2026 · Neurogenetics
  31. Founder mutations in movement disorders: global distribution, molecular mechanisms, and clinical consequences—a scoping review
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  32. Expanding the genetic spectrum of inherited peripheral neuropathies in complex neurogenetic disorders using whole-exome sequencing
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  33. Genetics of Recessive Ataxias
    Stephan Klebe, Mathieu Anheim · 2015 · Springer eBooks