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Purpose <p>Our aim was to investigate brain metabolic connectivity, as assessed via [<sup>18</sup>F]FDG-PET, in ALS patients carrying the <i>C9ORF72</i> expansion (<i>C9</i>-ALS).</p> Methods <p>We compared brain metabolism of <i>C9</i>-ALS and patients without mutations of the main ALS-related genes (ctrl-ALS) through the two-sample t-test model of SPM12. Metabolic clusters showing a significant difference between the two groups were used as seed regions for an interregional correlation analysis (IRCA) in each group to evaluate metabolic connectivity.</p> Results <p>As compared to ctrl-ALS, <i>C9</i>-ALS showed a relative hypometabolism in bilateral thalamus and left precentral and postcentral gyri, and a relative hypermetabolism in bilateral cerebellum and brainstem. In the IRCA, a positive correlation was found between the thalamic seed region and the cingulate cortex, including its anterior part. This correlation was broader in <i>C9</i>-ALS than in Ctrl-ALS. A negative correlation between the thalamic seed region and the sensorimotor cortex was only found in <i>C9</i>-ALS. In the IRCA, based on the cerebellar/brainstem cluster, positive correlations with the seed region substantially represented autocorrelation in both groups. Negative correlation, which mainly included frontal cortices, was more extensive in <i>C9</i>-ALS than in Ctrl-ALS.</p> Conclusion <p>In the comparison with ctrl-ALS, <i>C9</i>-ALS showed a relatively lower metabolism in the thalami and a relatively higher metabolism in the brainstem and the cerebellum. As compared to ctrl-ALS, <i>C9</i>-ALS showed a predominant involvement of the salience network, which is related to cognitive and behavioural control. The cerebellum might be recruited to cope with cognitive impairment to a greater extent in <i>C9</i>-ALS than in ctrl-ALS.</p>

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Brain metabolic connectivity in ALS due to C9ORF72 hexanucleotide expansion: a [18F]FDG-PET study

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  • 发表日期：

    2025年12月11日

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  • Antonio Canosa,
  • Stefano Callegaro,
  • Umberto Manera,
  • Rosario Vasta,
  • Sara Cabras,
  • Francesca Di Pede,
  • Filippo De Mattei,
  • Francesca Palumbo,
  • Barbara Iazzolino,
  • Anastasia Dei Giudici,
  • Enrico Matteoni,
  • Grazia Zocco,
  • Emilio Minerva,
  • Alessandra Maccabeo,
  • Giorgio Pellegrino,
  • Daniela Pascariu,
  • Maurizio Grassano,
  • Pietro Piombino,
  • Marcella Testa,
  • Giulia Polverari,
  • Giuseppe Fuda,
  • Ilaria Merulla,
  • Federico Casale,
  • Salvatore Gallone,
  • Cristina Moglia,
  • Andrea Calvo,
  • Marco Pagani,
  • Adriano Chiò

摘要

Purpose

Our aim was to investigate brain metabolic connectivity, as assessed via [18F]FDG-PET, in ALS patients carrying the C9ORF72 expansion (C9-ALS).

Methods

We compared brain metabolism of C9-ALS and patients without mutations of the main ALS-related genes (ctrl-ALS) through the two-sample t-test model of SPM12. Metabolic clusters showing a significant difference between the two groups were used as seed regions for an interregional correlation analysis (IRCA) in each group to evaluate metabolic connectivity.

Results

As compared to ctrl-ALS, C9-ALS showed a relative hypometabolism in bilateral thalamus and left precentral and postcentral gyri, and a relative hypermetabolism in bilateral cerebellum and brainstem. In the IRCA, a positive correlation was found between the thalamic seed region and the cingulate cortex, including its anterior part. This correlation was broader in C9-ALS than in Ctrl-ALS. A negative correlation between the thalamic seed region and the sensorimotor cortex was only found in C9-ALS. In the IRCA, based on the cerebellar/brainstem cluster, positive correlations with the seed region substantially represented autocorrelation in both groups. Negative correlation, which mainly included frontal cortices, was more extensive in C9-ALS than in Ctrl-ALS.

Conclusion

In the comparison with ctrl-ALS, C9-ALS showed a relatively lower metabolism in the thalami and a relatively higher metabolism in the brainstem and the cerebellum. As compared to ctrl-ALS, C9-ALS showed a predominant involvement of the salience network, which is related to cognitive and behavioural control. The cerebellum might be recruited to cope with cognitive impairment to a greater extent in C9-ALS than in ctrl-ALS.