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<p>In this study, we present two patients from a Pakistani family affected by autosomal recessive spastic ataxia of Charlevoix–Saguenay, a rare neurodegenerative disorder. Exome sequencing identified a homozygous 4-bp duplication (NM_014363.6:c.12129_12132dup, p.Leu4045ArgfsTer8) in <i>SACS</i> correlating with disease in the affected family members.</p>

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Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix–Saguenay type in two Pakistani patients

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月28日

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  • Saba Bibi,
  • Asad Munir,
  • Fawad Ali,
  • Helen Nabiryo Frederiksen,
  • Sabawoon Shah,
  • Abdur Rashid,
  • Sergey Oreshkov,
  • Shahab Uddin,
  • Hamid Ur Rahman,
  • Shumaila Noreen,
  • Mukhtar Ullah,
  • Muhammad Ansar,
  • Atta Ur Rehman

摘要

In this study, we present two patients from a Pakistani family affected by autosomal recessive spastic ataxia of Charlevoix–Saguenay, a rare neurodegenerative disorder. Exome sequencing identified a homozygous 4-bp duplication (NM_014363.6:c.12129_12132dup, p.Leu4045ArgfsTer8) in SACS correlating with disease in the affected family members.