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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 Cohort

2026-02-09

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) diagnosis traditionally relies on the classic triad; however, the spectrum in Asian populations remains undefined. We systematically characterized Japanese ARSACS to expand the mutational landscape and diagnostic boundaries. <bold>Results:</bold> We conducted a retrospective cohort study at...

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Literature Corpus work: f3944804-a074-54f5-9aaf-5274a7b6bbd4
DOI: 10.21203/rs.3.rs-8207096/v1

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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 CohortDOI 10.21203/rs.3.rs-8207096/v1Read

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