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<p>We investigated the basis and clinical correlates of a negative cerebrospinal fluid (CSF) alpha-synuclein (α-syn) seed amplification assay result in patients with a clinical diagnosis of sporadic or <i>GBA1</i>-associated PD formulated by movement disorder specialists. Out of 473 participants with a confirmed PD diagnosis at the last follow-up, 62 (13.1%) were α-syn negative. Among them, 3 out of 15 with available longitudinal CSF samples converted to α-syn positive. Alpha-syn negative participants had more severe axial motor impairment, lower odds of hyposmia, REM sleep behaviour disorder and constipation. There were no differences in motor and cognitive progression between groups. CSF neurofilament light chain values were not associated with α-syn status. Besides possible misdiagnosis, the results indicate that α-syn negative PD comprises a distinct patient subgroup, possibly associated with a low burden or absence of Lewy body pathology. The results support the use of CSF α-syn SAA in PD patient stratification.</p>

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Clinical correlates of a negative cerebrospinal fluid α-synuclein seed amplification assay result in Parkinson’s disease

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月14日

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  • Andrea Mastrangelo,
  • Isabel Wurster,
  • Alice Ticca,
  • Stefanie Lerche,
  • Corrado Zenesini,
  • Benjamin Röben,
  • Angela Mammana,
  • Ann-Kathrin Hauser,
  • Edoardo Ruggeri,
  • Christian Deuschle,
  • Erica Vittoriosi,
  • Giuseppe Mario Bentivenga,
  • Claudia Schulte,
  • Sabina Capellari,
  • Kathrin Brockmann,
  • Piero Parchi

摘要

We investigated the basis and clinical correlates of a negative cerebrospinal fluid (CSF) alpha-synuclein (α-syn) seed amplification assay result in patients with a clinical diagnosis of sporadic or GBA1-associated PD formulated by movement disorder specialists. Out of 473 participants with a confirmed PD diagnosis at the last follow-up, 62 (13.1%) were α-syn negative. Among them, 3 out of 15 with available longitudinal CSF samples converted to α-syn positive. Alpha-syn negative participants had more severe axial motor impairment, lower odds of hyposmia, REM sleep behaviour disorder and constipation. There were no differences in motor and cognitive progression between groups. CSF neurofilament light chain values were not associated with α-syn status. Besides possible misdiagnosis, the results indicate that α-syn negative PD comprises a distinct patient subgroup, possibly associated with a low burden or absence of Lewy body pathology. The results support the use of CSF α-syn SAA in PD patient stratification.