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<p>Familial Alzheimer’s disease (FAD) accounts for &lt; 1% of AD cases and is mainly associated with pathogenic variations in <i>presenilin 1</i> (<i>PSEN1</i>), PSEN2 and the <i>amyloid precursor protein</i> [1]. Most patients present with an earlier onset classic amnestic syndrome [2]. We report a 37-year-old female with progressive spastic paraparesis (SP), wheelchair-dependent at 40-years-old and bedridden at 43yo. She developed mild cognitive complaints at 41yo. Multigene panel revealed a rare probably pathogenic heterozygous <i>PSEN1</i> variant (p.Pro433Ser). CSF was consistent with pathological Alzheimer continuum. This highlights the importance of considering AD in SP of undetermined cause, showing a novel clinical association between <i>PSEN1</i> p.Pro433Ser and SP.</p>

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Spastic paraparesis linked to a rare presenilin-1 mutation

  • 期刊论文

  • 发表日期：

    2026年5月11日

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  • Catarina Teles,
  • João Durães,
  • Pedro Faustino,
  • Inês Baldeiras,
  • Helena Gens,
  • Miguel Tábuas Pereira,
  • Maria Rosário Almeida,
  • Isabel Santana

摘要

Familial Alzheimer’s disease (FAD) accounts for < 1% of AD cases and is mainly associated with pathogenic variations in presenilin 1 (PSEN1), PSEN2 and the amyloid precursor protein [1]. Most patients present with an earlier onset classic amnestic syndrome [2]. We report a 37-year-old female with progressive spastic paraparesis (SP), wheelchair-dependent at 40-years-old and bedridden at 43yo. She developed mild cognitive complaints at 41yo. Multigene panel revealed a rare probably pathogenic heterozygous PSEN1 variant (p.Pro433Ser). CSF was consistent with pathological Alzheimer continuum. This highlights the importance of considering AD in SP of undetermined cause, showing a novel clinical association between PSEN1 p.Pro433Ser and SP.