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<p>Metachromatic Leukodystrophy (MLD) is a rare autosomal recessive lysosomal disorder caused by <i>ARSA</i> gene variants, affecting central and peripheral nervous systems. While ARSA variants are reported globally, data from sub-Saharan Africa (SSA) are limited. We report the first SSA case, a Malian patient with a rare phenotype: predominant tonic seizures without typical peripheral neuropathy signs. The patient harbored a novel <i>ARSA</i> variant (c.191T &gt; C; p.Phe64Ser), predicted deleterious by in silico tools. This case expands the genetic and phenotypic spectrum of MLD, underscoring the need for genetic studies in underrepresented regions.</p>

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A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family

  • 期刊论文

  • 发表日期：

    2025年3月11日

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  • Alassane Baneye Maiga,
  • Abdoulaye Arama,
  • Abdoulaye Yalcouyé,
  • Mohamed Albakaye,
  • Ji Weizhen,
  • Salia Bamba,
  • Oumou Traoré,
  • Moussa Sangaré,
  • Mahamadou Kotioumbé,
  • Samba Ogomaly Djimdé,
  • Modibo K. Goita,
  • Salimata Diarra,
  • Mustafa K. Khokha,
  • Saquib A. Lakhani,
  • Guida Landouré

摘要

Metachromatic Leukodystrophy (MLD) is a rare autosomal recessive lysosomal disorder caused by ARSA gene variants, affecting central and peripheral nervous systems. While ARSA variants are reported globally, data from sub-Saharan Africa (SSA) are limited. We report the first SSA case, a Malian patient with a rare phenotype: predominant tonic seizures without typical peripheral neuropathy signs. The patient harbored a novel ARSA variant (c.191T > C; p.Phe64Ser), predicted deleterious by in silico tools. This case expands the genetic and phenotypic spectrum of MLD, underscoring the need for genetic studies in underrepresented regions.