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<p>ARSACS (Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay) is a neurodegenerative disease resulting from mutation in the <i>SACS</i>&#xa0;gene. Although it classically presents with the triad of ataxia, spasticity and peripheral neuropathy, it is known to have variability in clinical presentation, progression and severity. We report two atypical cases of ARSACS (both without spasticity) and one presenting with focal epilepsy (another rare clinical manifestation). </p>

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Rare and Atypical Manifestations of ARSACS—A Report of Two Cases

  • 期刊论文

  • 发表日期：

    2026年4月6日

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  • Roshni R Lal,
  • Mary Iype,
  • Mini Sreedharan,
  • Shahanaz Ahamed,
  • Mithran O Surendran,
  • Sarath R S,
  • Reshmi Raveendran,
  • Priyanka Sahu,
  • Shama Perween,
  • Neeraja Beena,
  • Greeshmendu Rajan

摘要

ARSACS (Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay) is a neurodegenerative disease resulting from mutation in the SACS gene. Although it classically presents with the triad of ataxia, spasticity and peripheral neuropathy, it is known to have variability in clinical presentation, progression and severity. We report two atypical cases of ARSACS (both without spasticity) and one presenting with focal epilepsy (another rare clinical manifestation).