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<p>Leukoencephalopathies encompass a heterogeneous group of acquired and genetic white matter disorders with variable clinical presentations. We report a case of adult-onset leukoencephalopathy caused by a heterozygous frameshift <i>LAMB1</i> deletion in a 65-year-old woman presenting with progressive cognitive decline, mood changes, and migraine. Whole-exome sequencing identified a likely pathogenic variant, enabling a diagnosis after extensive metabolic and genetic workup. This case highlights the importance of considering <i>LAMB1</i> variants in unexplained adult-onset leukoencephalopathies associated with cognitive decline.</p>

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LAMB1-related adult-onset leukoencephalopathy presenting with cognitive decline: diagnostic workup and review of the literature

  • 期刊论文

  • 发表日期：

    2026年4月16日

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  • Federica Palacino,
  • Elena Betto,
  • Maja Ukmar,
  • Tatiana Cattaruzza,
  • Giuseppe Damante,
  • Paolo Manganotti,
  • Alberto Benussi

摘要

Leukoencephalopathies encompass a heterogeneous group of acquired and genetic white matter disorders with variable clinical presentations. We report a case of adult-onset leukoencephalopathy caused by a heterozygous frameshift LAMB1 deletion in a 65-year-old woman presenting with progressive cognitive decline, mood changes, and migraine. Whole-exome sequencing identified a likely pathogenic variant, enabling a diagnosis after extensive metabolic and genetic workup. This case highlights the importance of considering LAMB1 variants in unexplained adult-onset leukoencephalopathies associated with cognitive decline.